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Select item 14915665561.

rs1491566556 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:207590084 (GRCh38)
2:208454809 (GRCh37)
Canonical SPDI:: NC_000002.12:207590084::C
Gene:: CREB1 (Varview), METTL21A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.207590084_207590085insC, NC_000002.11:g.208454808_208454809insC, NG_023299.1:g.65193_65194insC

Select item 14915619822.

rs1491561982 has merged into rs67598600 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC [Show Flanks]
Chromosome:: 2:207575946 (GRCh38)
2:208440670 (GRCh37)
Canonical SPDI:: NC_000002.12:207575934:CCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000002.12:207575934:CCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000002.12:207575934:CCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000002.12:207575934:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000002.12:207575934:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000002.12:207575934:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000002.12:207575934:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000002.12:207575934:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000002.12:207575934:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC
Gene:: CREB1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCC=0./0 (ALFA)
-=0.1667/6 (GENOME_DK)
HGVS:: NC_000002.12:g.207575946_207575948del, NC_000002.12:g.207575947_207575948del, NC_000002.12:g.207575948del, NC_000002.12:g.207575948dup, NC_000002.12:g.207575947_207575948dup, NC_000002.12:g.207575946_207575948dup, NC_000002.12:g.207575945_207575948dup, NC_000002.12:g.207575944_207575948dup, NC_000002.12:g.207575943_207575948dup, NC_000002.11:g.208440670_208440672del, NC_000002.11:g.208440671_208440672del, NC_000002.11:g.208440672del, NC_000002.11:g.208440672dup, NC_000002.11:g.208440671_208440672dup, NC_000002.11:g.208440670_208440672dup, NC_000002.11:g.208440669_208440672dup, NC_000002.11:g.208440668_208440672dup, NC_000002.11:g.208440667_208440672dup, NG_023299.1:g.51055_51057del, NG_023299.1:g.51056_51057del, NG_023299.1:g.51057del, NG_023299.1:g.51057dup, NG_023299.1:g.51056_51057dup, NG_023299.1:g.51055_51057dup, NG_023299.1:g.51054_51057dup, NG_023299.1:g.51053_51057dup, NG_023299.1:g.51052_51057dup

Select item 14915579963.

rs1491557996 has merged into rs143222694 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 2:207598496 (GRCh38)
2:208463220 (GRCh37)
Canonical SPDI:: NC_000002.12:207598486:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:207598486:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:207598486:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:207598486:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:207598486:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:207598486:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:207598486:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:207598486:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:207598486:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: CREB1 (Varview), METTL21A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AA=0.0982/492 (1000Genomes)
AA=0.25/10 (GENOME_DK)
HGVS:: NC_000002.12:g.207598496_207598502del, NC_000002.12:g.207598497_207598502del, NC_000002.12:g.207598498_207598502del, NC_000002.12:g.207598499_207598502del, NC_000002.12:g.207598500_207598502del, NC_000002.12:g.207598501_207598502del, NC_000002.12:g.207598502del, NC_000002.12:g.207598502dup, NC_000002.12:g.207598501_207598502dup, NC_000002.11:g.208463220_208463226del, NC_000002.11:g.208463221_208463226del, NC_000002.11:g.208463222_208463226del, NC_000002.11:g.208463223_208463226del, NC_000002.11:g.208463224_208463226del, NC_000002.11:g.208463225_208463226del, NC_000002.11:g.208463226del, NC_000002.11:g.208463226dup, NC_000002.11:g.208463225_208463226dup, NG_023299.1:g.73605_73611del, NG_023299.1:g.73606_73611del, NG_023299.1:g.73607_73611del, NG_023299.1:g.73608_73611del, NG_023299.1:g.73609_73611del, NG_023299.1:g.73610_73611del, NG_023299.1:g.73611del, NG_023299.1:g.73611dup, NG_023299.1:g.73610_73611dup, NM_134442.5:c.*1438_*1444del, NM_134442.5:c.*1439_*1444del, NM_134442.5:c.*1440_*1444del, NM_134442.5:c.*1441_*1444del, NM_134442.5:c.*1442_*1444del, NM_134442.5:c.*1443_*1444del, NM_134442.5:c.*1444del, NM_134442.5:c.*1444dup, NM_134442.5:c.*1443_*1444dup, NM_134442.4:c.*1438_*1444del, NM_134442.4:c.*1439_*1444del, NM_134442.4:c.*1440_*1444del, NM_134442.4:c.*1441_*1444del, NM_134442.4:c.*1442_*1444del, NM_134442.4:c.*1443_*1444del, NM_134442.4:c.*1444del, NM_134442.4:c.*1444dup, NM_134442.4:c.*1443_*1444dup, NM_134442.3:c.*1438_*1444del, NM_134442.3:c.*1439_*1444del, NM_134442.3:c.*1440_*1444del, NM_134442.3:c.*1441_*1444del, NM_134442.3:c.*1442_*1444del, NM_134442.3:c.*1443_*1444del, NM_134442.3:c.*1444del, NM_134442.3:c.*1444dup, NM_134442.3:c.*1443_*1444dup, NM_004379.5:c.*1438_*1444del, NM_004379.5:c.*1439_*1444del, NM_004379.5:c.*1440_*1444del, NM_004379.5:c.*1441_*1444del, NM_004379.5:c.*1442_*1444del, NM_004379.5:c.*1443_*1444del, NM_004379.5:c.*1444del, NM_004379.5:c.*1444dup, NM_004379.5:c.*1443_*1444dup, NM_004379.4:c.*1438_*1444del, NM_004379.4:c.*1439_*1444del, NM_004379.4:c.*1440_*1444del, NM_004379.4:c.*1441_*1444del, NM_004379.4:c.*1442_*1444del, NM_004379.4:c.*1443_*1444del, NM_004379.4:c.*1444del, NM_004379.4:c.*1444dup, NM_004379.4:c.*1443_*1444dup, NM_004379.3:c.*1438_*1444del, NM_004379.3:c.*1439_*1444del, NM_004379.3:c.*1440_*1444del, NM_004379.3:c.*1441_*1444del, NM_004379.3:c.*1442_*1444del, NM_004379.3:c.*1443_*1444del, NM_004379.3:c.*1444del, NM_004379.3:c.*1444dup, NM_004379.3:c.*1443_*1444dup, NM_001371426.1:c.*1438_*1444del, NM_001371426.1:c.*1439_*1444del, NM_001371426.1:c.*1440_*1444del, NM_001371426.1:c.*1441_*1444del, NM_001371426.1:c.*1442_*1444del, NM_001371426.1:c.*1443_*1444del, NM_001371426.1:c.*1444del, NM_001371426.1:c.*1444dup, NM_001371426.1:c.*1443_*1444dup, NM_001371427.1:c.*1438_*1444del, NM_001371427.1:c.*1439_*1444del, NM_001371427.1:c.*1440_*1444del, NM_001371427.1:c.*1441_*1444del, NM_001371427.1:c.*1442_*1444del, NM_001371427.1:c.*1443_*1444del, NM_001371427.1:c.*1444del, NM_001371427.1:c.*1444dup, NM_001371427.1:c.*1443_*1444dup, NM_001371428.1:c.*1438_*1444del, NM_001371428.1:c.*1439_*1444del, NM_001371428.1:c.*1440_*1444del, NM_001371428.1:c.*1441_*1444del, NM_001371428.1:c.*1442_*1444del, NM_001371428.1:c.*1443_*1444del, NM_001371428.1:c.*1444del, NM_001371428.1:c.*1444dup, NM_001371428.1:c.*1443_*1444dup, XM_011510646.4:c.*1539_*1545del, XM_011510646.4:c.*1540_*1545del, XM_011510646.4:c.*1541_*1545del, XM_011510646.4:c.*1542_*1545del, XM_011510646.4:c.*1543_*1545del, XM_011510646.4:c.*1544_*1545del, XM_011510646.4:c.*1545del, XM_011510646.4:c.*1545dup, XM_011510646.4:c.*1544_*1545dup, XM_011510646.3:c.*1539_*1545del, XM_011510646.3:c.*1540_*1545del, XM_011510646.3:c.*1541_*1545del, XM_011510646.3:c.*1542_*1545del, XM_011510646.3:c.*1543_*1545del, XM_011510646.3:c.*1544_*1545del, XM_011510646.3:c.*1545del, XM_011510646.3:c.*1545dup, XM_011510646.3:c.*1544_*1545dup, XM_011510646.2:c.*1539_*1545del, XM_011510646.2:c.*1540_*1545del, XM_011510646.2:c.*1541_*1545del, XM_011510646.2:c.*1542_*1545del, XM_011510646.2:c.*1543_*1545del, XM_011510646.2:c.*1544_*1545del, XM_011510646.2:c.*1545del, XM_011510646.2:c.*1545dup, XM_011510646.2:c.*1544_*1545dup, XM_011510650.4:c.*1438_*1444del, XM_011510650.4:c.*1439_*1444del, XM_011510650.4:c.*1440_*1444del, XM_011510650.4:c.*1441_*1444del, XM_011510650.4:c.*1442_*1444del, XM_011510650.4:c.*1443_*1444del, XM_011510650.4:c.*1444del, XM_011510650.4:c.*1444dup, XM_011510650.4:c.*1443_*1444dup, XM_011510650.3:c.*1438_*1444del, XM_011510650.3:c.*1439_*1444del, XM_011510650.3:c.*1440_*1444del, XM_011510650.3:c.*1441_*1444del, XM_011510650.3:c.*1442_*1444del, XM_011510650.3:c.*1443_*1444del, XM_011510650.3:c.*1444del, XM_011510650.3:c.*1444dup, XM_011510650.3:c.*1443_*1444dup, XM_011510650.2:c.*1438_*1444del, XM_011510650.2:c.*1439_*1444del, XM_011510650.2:c.*1440_*1444del, XM_011510650.2:c.*1441_*1444del, XM_011510650.2:c.*1442_*1444del, XM_011510650.2:c.*1443_*1444del, XM_011510650.2:c.*1444del, XM_011510650.2:c.*1444dup, XM_011510650.2:c.*1443_*1444dup, XM_011510650.1:c.*1438_*1444del, XM_011510650.1:c.*1439_*1444del, XM_011510650.1:c.*1440_*1444del, XM_011510650.1:c.*1441_*1444del, XM_011510650.1:c.*1442_*1444del, XM_011510650.1:c.*1443_*1444del, XM_011510650.1:c.*1444del, XM_011510650.1:c.*1444dup, XM_011510650.1:c.*1443_*1444dup, XM_017003401.3:c.*1438_*1444del, XM_017003401.3:c.*1439_*1444del, XM_017003401.3:c.*1440_*1444del, XM_017003401.3:c.*1441_*1444del, XM_017003401.3:c.*1442_*1444del, XM_017003401.3:c.*1443_*1444del, XM_017003401.3:c.*1444del, XM_017003401.3:c.*1444dup, XM_017003401.3:c.*1443_*1444dup, XM_017003401.2:c.*1438_*1444del, XM_017003401.2:c.*1439_*1444del, XM_017003401.2:c.*1440_*1444del, XM_017003401.2:c.*1441_*1444del, XM_017003401.2:c.*1442_*1444del, XM_017003401.2:c.*1443_*1444del, XM_017003401.2:c.*1444del, XM_017003401.2:c.*1444dup, XM_017003401.2:c.*1443_*1444dup, XM_017003401.1:c.*1438_*1444del, XM_017003401.1:c.*1439_*1444del, XM_017003401.1:c.*1440_*1444del, XM_017003401.1:c.*1441_*1444del, XM_017003401.1:c.*1442_*1444del, XM_017003401.1:c.*1443_*1444del, XM_017003401.1:c.*1444del, XM_017003401.1:c.*1444dup, XM_017003401.1:c.*1443_*1444dup, XM_047443435.1:c.*1438_*1444del, XM_047443435.1:c.*1439_*1444del, XM_047443435.1:c.*1440_*1444del, XM_047443435.1:c.*1441_*1444del, XM_047443435.1:c.*1442_*1444del, XM_047443435.1:c.*1443_*1444del, XM_047443435.1:c.*1444del, XM_047443435.1:c.*1444dup, XM_047443435.1:c.*1443_*1444dup, XM_047443437.1:c.*1539_*1545del, XM_047443437.1:c.*1540_*1545del, XM_047443437.1:c.*1541_*1545del, XM_047443437.1:c.*1542_*1545del, XM_047443437.1:c.*1543_*1545del, XM_047443437.1:c.*1544_*1545del, XM_047443437.1:c.*1545del, XM_047443437.1:c.*1545dup, XM_047443437.1:c.*1544_*1545dup, XM_047443436.1:c.*1539_*1545del, XM_047443436.1:c.*1540_*1545del, XM_047443436.1:c.*1541_*1545del, XM_047443436.1:c.*1542_*1545del, XM_047443436.1:c.*1543_*1545del, XM_047443436.1:c.*1544_*1545del, XM_047443436.1:c.*1545del, XM_047443436.1:c.*1545dup, XM_047443436.1:c.*1544_*1545dup, XM_047443444.1:c.*1438_*1444del, XM_047443444.1:c.*1439_*1444del, XM_047443444.1:c.*1440_*1444del, XM_047443444.1:c.*1441_*1444del, XM_047443444.1:c.*1442_*1444del, XM_047443444.1:c.*1443_*1444del, XM_047443444.1:c.*1444del, XM_047443444.1:c.*1444dup, XM_047443444.1:c.*1443_*1444dup

Select item 14915250754.

rs1491525075 has merged into rs140908499 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT [Show Flanks]
Chromosome:: 2:207590319 (GRCh38)
2:208455043 (GRCh37)
Canonical SPDI:: NC_000002.12:207590312:CTCTCTCTCT:CTCTCT,NC_000002.12:207590312:CTCTCTCTCT:CTCTCTCT,NC_000002.12:207590312:CTCTCTCTCT:CTCTCTCTCTCT
Gene:: CREB1 (Varview), METTL21A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCT=0./0 (ALFA)
CT=0.00031/2 (1000Genomes)
HGVS:: NC_000002.12:g.207590313CT[3], NC_000002.12:g.207590313CT[4], NC_000002.12:g.207590313CT[6], NC_000002.11:g.208455037CT[3], NC_000002.11:g.208455037CT[4], NC_000002.11:g.208455037CT[6], NG_023299.1:g.65422CT[3], NG_023299.1:g.65422CT[4], NG_023299.1:g.65422CT[6]

Select item 14915072765.

rs1491507276 has merged into rs35735523 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTGGTTTTTTTTTTTTTTTTTT,TTTTTTTTTGGTTTTTTTTTTTTTTTTTTT,TTTTTTTTTGTTTTTTTTTTTTTTTTTT,TTTTTTTTTGTTTTTTTTTTTTTTTTTTT,TTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTT,TTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTGGTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTGTTTTTTTTTTTTTTTTTT,TTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTGATTTTGTTTTTTTTGTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:207576251 (GRCh38)
2:208440975 (GRCh37)
Canonical SPDI:: NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTGATTTTGTTTTTTTTGTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207576241:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CREB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.185/713 (ALSPAC)
T=0.1995/999 (1000Genomes)
T=0.4474/17 (GENOME_DK)
HGVS:: NC_000002.12:g.207576251_207576259del, NC_000002.12:g.207576255_207576259del, NC_000002.12:g.207576256_207576259del, NC_000002.12:g.207576257_207576259del, NC_000002.12:g.207576258_207576259del, NC_000002.12:g.207576259del, NC_000002.12:g.207576242_207576259T[18]GGTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[18]GGTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[18]GTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[18]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[18]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[18]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[18]GTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[18]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[18]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[18]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[18]GTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576259dup, NC_000002.12:g.207576242_207576259T[19]GGTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[19]GGTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[19]GGTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[19]GTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[19]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[19]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[19]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[19]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[19]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[19]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[19]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[19]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[19]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576258_207576259dup, NC_000002.12:g.207576242_207576259T[20]GTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[20]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[20]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[20]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[20]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576257_207576259dup, NC_000002.12:g.207576242_207576259T[21]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576253_207576259dup, NC_000002.12:g.207576251_207576259dup, NC_000002.12:g.207576250_207576259dup, NC_000002.12:g.207576249_207576259dup, NC_000002.12:g.207576248_207576259dup, NC_000002.12:g.207576242_207576259T[30]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576247_207576259dup, NC_000002.12:g.207576242_207576259T[31]GTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[31]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576246_207576259dup, NC_000002.12:g.207576242_207576259T[32]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576243_207576259dup, NC_000002.12:g.207576242_207576259T[35]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259dup, NC_000002.12:g.207576259_207576260insTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.207576259_207576260insTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.207576259_207576260insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.207576259_207576260insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.207576242_207576259T[41]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576259_207576260insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.207576242_207576259T[42]GTTTTTTTTTTGATTTTGTTTTTTTTGTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[42]GTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[42]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[42]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576259_207576260insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.207576242_207576259T[43]GTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576242_207576259T[43]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576259_207576260insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.207576259_207576260insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.207576259_207576260insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.207576242_207576259T[48]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576259_207576260insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.207576259_207576260insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.207576242_207576259T[53]GTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207576259_207576260insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.207576259_207576260insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.207576259_207576260insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208440975_208440983del, NC_000002.11:g.208440979_208440983del, NC_000002.11:g.208440980_208440983del, NC_000002.11:g.208440981_208440983del, NC_000002.11:g.208440982_208440983del, NC_000002.11:g.208440983del, NC_000002.11:g.208440966_208440983T[18]GGTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[18]GGTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[18]GTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[18]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[18]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[18]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[18]GTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[18]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[18]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[18]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[18]GTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440983dup, NC_000002.11:g.208440966_208440983T[19]GGTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[19]GGTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[19]GGTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[19]GTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[19]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[19]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[19]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[19]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[19]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[19]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[19]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[19]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[19]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440982_208440983dup, NC_000002.11:g.208440966_208440983T[20]GTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[20]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[20]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[20]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[20]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440981_208440983dup, NC_000002.11:g.208440966_208440983T[21]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440977_208440983dup, NC_000002.11:g.208440975_208440983dup, NC_000002.11:g.208440974_208440983dup, NC_000002.11:g.208440973_208440983dup, NC_000002.11:g.208440972_208440983dup, NC_000002.11:g.208440966_208440983T[30]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440971_208440983dup, NC_000002.11:g.208440966_208440983T[31]GTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[31]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440970_208440983dup, NC_000002.11:g.208440966_208440983T[32]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440967_208440983dup, NC_000002.11:g.208440966_208440983T[35]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983dup, NC_000002.11:g.208440983_208440984insTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208440983_208440984insTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208440983_208440984insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208440983_208440984insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208440966_208440983T[41]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440983_208440984insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208440966_208440983T[42]GTTTTTTTTTTGATTTTGTTTTTTTTGTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[42]GTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[42]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[42]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440983_208440984insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208440966_208440983T[43]GTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440966_208440983T[43]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440983_208440984insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208440983_208440984insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208440983_208440984insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208440966_208440983T[48]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440983_208440984insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208440983_208440984insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208440966_208440983T[53]GTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208440983_208440984insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208440983_208440984insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208440983_208440984insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.51360_51368del, NG_023299.1:g.51364_51368del, NG_023299.1:g.51365_51368del, NG_023299.1:g.51366_51368del, NG_023299.1:g.51367_51368del, NG_023299.1:g.51368del, NG_023299.1:g.51351_51368T[18]GGTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[18]GGTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[18]GTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[18]GTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[18]GTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[18]GTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[18]GTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[18]GTTTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[18]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[18]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[18]GTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51368dup, NG_023299.1:g.51351_51368T[19]GGTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[19]GGTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[19]GGTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[19]GTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[19]GTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[19]GTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[19]GTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[19]GTTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[19]GTTTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[19]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[19]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[19]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[19]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51367_51368dup, NG_023299.1:g.51351_51368T[20]GTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[20]GTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[20]GTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[20]GTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[20]GTTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51366_51368dup, NG_023299.1:g.51351_51368T[21]GTTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51362_51368dup, NG_023299.1:g.51360_51368dup, NG_023299.1:g.51359_51368dup, NG_023299.1:g.51358_51368dup, NG_023299.1:g.51357_51368dup, NG_023299.1:g.51351_51368T[30]GTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51356_51368dup, NG_023299.1:g.51351_51368T[31]GTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[31]GTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51355_51368dup, NG_023299.1:g.51351_51368T[32]GTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51352_51368dup, NG_023299.1:g.51351_51368T[35]GTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368dup, NG_023299.1:g.51368_51369insTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.51368_51369insTTTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.51368_51369insTTTTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.51368_51369insTTTTTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.51351_51368T[41]GTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51368_51369insTTTTTTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.51351_51368T[42]GTTTTTTTTTTGATTTTGTTTTTTTTGTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[42]GTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[42]GTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[42]GTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51368_51369insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.51351_51368T[43]GTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51351_51368T[43]GTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51368_51369insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.51368_51369insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.51368_51369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.51351_51368T[48]ATTTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51368_51369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.51368_51369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.51351_51368T[53]GTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.51368_51369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.51368_51369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.51368_51369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915051946.

rs1491505194 has merged into rs35714520 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:207540677 (GRCh38)
2:208405401 (GRCh37)
Canonical SPDI:: NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207540669:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CREB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.207540677_207540697del, NC_000002.12:g.207540679_207540697del, NC_000002.12:g.207540680_207540697del, NC_000002.12:g.207540681_207540697del, NC_000002.12:g.207540682_207540697del, NC_000002.12:g.207540683_207540697del, NC_000002.12:g.207540684_207540697del, NC_000002.12:g.207540685_207540697del, NC_000002.12:g.207540686_207540697del, NC_000002.12:g.207540687_207540697del, NC_000002.12:g.207540688_207540697del, NC_000002.12:g.207540689_207540697del, NC_000002.12:g.207540690_207540697del, NC_000002.12:g.207540691_207540697del, NC_000002.12:g.207540692_207540697del, NC_000002.12:g.207540693_207540697del, NC_000002.12:g.207540694_207540697del, NC_000002.12:g.207540695_207540697del, NC_000002.12:g.207540696_207540697del, NC_000002.12:g.207540697del, NC_000002.12:g.207540697dup, NC_000002.12:g.207540696_207540697dup, NC_000002.12:g.207540695_207540697dup, NC_000002.12:g.207540694_207540697dup, NC_000002.12:g.207540693_207540697dup, NC_000002.12:g.207540692_207540697dup, NC_000002.12:g.207540691_207540697dup, NC_000002.12:g.207540690_207540697dup, NC_000002.12:g.207540689_207540697dup, NC_000002.12:g.207540688_207540697dup, NC_000002.12:g.207540687_207540697dup, NC_000002.12:g.207540686_207540697dup, NC_000002.12:g.207540684_207540697dup, NC_000002.12:g.207540681_207540697dup, NC_000002.12:g.207540680_207540697dup, NC_000002.12:g.207540679_207540697dup, NC_000002.12:g.207540678_207540697dup, NC_000002.12:g.207540677_207540697dup, NC_000002.12:g.207540676_207540697dup, NC_000002.12:g.207540675_207540697dup, NC_000002.12:g.207540674_207540697dup, NC_000002.12:g.207540673_207540697dup, NC_000002.12:g.207540672_207540697dup, NC_000002.12:g.207540697_207540698insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.207540697_207540698insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.207540697_207540698insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.207540670_207540697A[36]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.12:g.207540670_207540697A[31]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.12:g.207540670_207540697A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.12:g.207540670_207540697A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.12:g.207540670_207540697A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.12:g.207540670_207540697A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.12:g.207540670_207540697A[28]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.208405401_208405421del, NC_000002.11:g.208405403_208405421del, NC_000002.11:g.208405404_208405421del, NC_000002.11:g.208405405_208405421del, NC_000002.11:g.208405406_208405421del, NC_000002.11:g.208405407_208405421del, NC_000002.11:g.208405408_208405421del, NC_000002.11:g.208405409_208405421del, NC_000002.11:g.208405410_208405421del, NC_000002.11:g.208405411_208405421del, NC_000002.11:g.208405412_208405421del, NC_000002.11:g.208405413_208405421del, NC_000002.11:g.208405414_208405421del, NC_000002.11:g.208405415_208405421del, NC_000002.11:g.208405416_208405421del, NC_000002.11:g.208405417_208405421del, NC_000002.11:g.208405418_208405421del, NC_000002.11:g.208405419_208405421del, NC_000002.11:g.208405420_208405421del, NC_000002.11:g.208405421del, NC_000002.11:g.208405421dup, NC_000002.11:g.208405420_208405421dup, NC_000002.11:g.208405419_208405421dup, NC_000002.11:g.208405418_208405421dup, NC_000002.11:g.208405417_208405421dup, NC_000002.11:g.208405416_208405421dup, NC_000002.11:g.208405415_208405421dup, NC_000002.11:g.208405414_208405421dup, NC_000002.11:g.208405413_208405421dup, NC_000002.11:g.208405412_208405421dup, NC_000002.11:g.208405411_208405421dup, NC_000002.11:g.208405410_208405421dup, NC_000002.11:g.208405408_208405421dup, NC_000002.11:g.208405405_208405421dup, NC_000002.11:g.208405404_208405421dup, NC_000002.11:g.208405403_208405421dup, NC_000002.11:g.208405402_208405421dup, NC_000002.11:g.208405401_208405421dup, NC_000002.11:g.208405400_208405421dup, NC_000002.11:g.208405399_208405421dup, NC_000002.11:g.208405398_208405421dup, NC_000002.11:g.208405397_208405421dup, NC_000002.11:g.208405396_208405421dup, NC_000002.11:g.208405421_208405422insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.208405421_208405422insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.208405421_208405422insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.208405394_208405421A[36]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.208405394_208405421A[31]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.208405394_208405421A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.208405394_208405421A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.208405394_208405421A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.208405394_208405421A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.208405394_208405421A[28]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023299.1:g.15786_15806del, NG_023299.1:g.15788_15806del, NG_023299.1:g.15789_15806del, NG_023299.1:g.15790_15806del, NG_023299.1:g.15791_15806del, NG_023299.1:g.15792_15806del, NG_023299.1:g.15793_15806del, NG_023299.1:g.15794_15806del, NG_023299.1:g.15795_15806del, NG_023299.1:g.15796_15806del, NG_023299.1:g.15797_15806del, NG_023299.1:g.15798_15806del, NG_023299.1:g.15799_15806del, NG_023299.1:g.15800_15806del, NG_023299.1:g.15801_15806del, NG_023299.1:g.15802_15806del, NG_023299.1:g.15803_15806del, NG_023299.1:g.15804_15806del, NG_023299.1:g.15805_15806del, NG_023299.1:g.15806del, NG_023299.1:g.15806dup, NG_023299.1:g.15805_15806dup, NG_023299.1:g.15804_15806dup, NG_023299.1:g.15803_15806dup, NG_023299.1:g.15802_15806dup, NG_023299.1:g.15801_15806dup, NG_023299.1:g.15800_15806dup, NG_023299.1:g.15799_15806dup, NG_023299.1:g.15798_15806dup, NG_023299.1:g.15797_15806dup, NG_023299.1:g.15796_15806dup, NG_023299.1:g.15795_15806dup, NG_023299.1:g.15793_15806dup, NG_023299.1:g.15790_15806dup, NG_023299.1:g.15789_15806dup, NG_023299.1:g.15788_15806dup, NG_023299.1:g.15787_15806dup, NG_023299.1:g.15786_15806dup, NG_023299.1:g.15785_15806dup, NG_023299.1:g.15784_15806dup, NG_023299.1:g.15783_15806dup, NG_023299.1:g.15782_15806dup, NG_023299.1:g.15781_15806dup, NG_023299.1:g.15806_15807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_023299.1:g.15806_15807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_023299.1:g.15806_15807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_023299.1:g.15779_15806A[36]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023299.1:g.15779_15806A[31]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023299.1:g.15779_15806A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023299.1:g.15779_15806A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023299.1:g.15779_15806A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023299.1:g.15779_15806A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023299.1:g.15779_15806A[28]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14915025717.

rs1491502571 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:207540669 (GRCh38)
2:208405393 (GRCh37)
Canonical SPDI:: NC_000002.12:207540668:TA:
Gene:: CREB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000002.12:g.207540669_207540670del, NC_000002.11:g.208405393_208405394del, NG_023299.1:g.15778_15779del

Select item 14914867758.

rs1491486775 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:207575935 (GRCh38)
2:208440660 (GRCh37)
Canonical SPDI:: NC_000002.12:207575935::T
Gene:: CREB1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00028/6 (TOMMO)
HGVS:: NC_000002.12:g.207575935_207575936insT, NC_000002.11:g.208440659_208440660insT, NG_023299.1:g.51044_51045insT

Select item 14914780719.

rs1491478071 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:207590313 (GRCh38)
2:208455038 (GRCh37)
Canonical SPDI:: NC_000002.12:207590313:T:TT
Gene:: CREB1 (Varview), METTL21A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.207590314dup, NC_000002.11:g.208455038dup, NG_023299.1:g.65423dup

Select item 149147274810.

rs1491472748 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 2:207575934 (GRCh38)
2:208440658 (GRCh37)
Canonical SPDI:: NC_000002.12:207575933:TC:
Gene:: CREB1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00126/15 (ALFA)
-=0.00387/71 (GnomAD)
-=0.01496/7 (NorthernSweden)
HGVS:: NC_000002.12:g.207575934_207575935del, NC_000002.11:g.208440658_208440659del, NG_023299.1:g.51043_51044del

Select item 149146850511.

rs1491468505 has merged into rs59126515 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:207590097 (GRCh38)
2:208454821 (GRCh37)
Canonical SPDI:: NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207590083:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CREB1 (Varview), METTL21A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.075/3 (GENOME_DK)
-=0.25/2 (KOREAN)
HGVS:: NC_000002.12:g.207590097_207590107del, NC_000002.12:g.207590098_207590107del, NC_000002.12:g.207590099_207590107del, NC_000002.12:g.207590101_207590107del, NC_000002.12:g.207590102_207590107del, NC_000002.12:g.207590103_207590107del, NC_000002.12:g.207590104_207590107del, NC_000002.12:g.207590106_207590107del, NC_000002.12:g.207590107del, NC_000002.12:g.207590107dup, NC_000002.12:g.207590106_207590107dup, NC_000002.12:g.207590105_207590107dup, NC_000002.12:g.207590104_207590107dup, NC_000002.12:g.207590103_207590107dup, NC_000002.12:g.207590102_207590107dup, NC_000002.12:g.207590101_207590107dup, NC_000002.12:g.207590100_207590107dup, NC_000002.12:g.207590099_207590107dup, NC_000002.12:g.207590089_207590107dup, NC_000002.12:g.207590088_207590107dup, NC_000002.12:g.207590087_207590107dup, NC_000002.12:g.207590084_207590107T[47]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.207590107_207590108insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.207590107_207590108insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.207590107_207590108insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.207590107_207590108insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208454821_208454831del, NC_000002.11:g.208454822_208454831del, NC_000002.11:g.208454823_208454831del, NC_000002.11:g.208454825_208454831del, NC_000002.11:g.208454826_208454831del, NC_000002.11:g.208454827_208454831del, NC_000002.11:g.208454828_208454831del, NC_000002.11:g.208454830_208454831del, NC_000002.11:g.208454831del, NC_000002.11:g.208454831dup, NC_000002.11:g.208454830_208454831dup, NC_000002.11:g.208454829_208454831dup, NC_000002.11:g.208454828_208454831dup, NC_000002.11:g.208454827_208454831dup, NC_000002.11:g.208454826_208454831dup, NC_000002.11:g.208454825_208454831dup, NC_000002.11:g.208454824_208454831dup, NC_000002.11:g.208454823_208454831dup, NC_000002.11:g.208454813_208454831dup, NC_000002.11:g.208454812_208454831dup, NC_000002.11:g.208454811_208454831dup, NC_000002.11:g.208454808_208454831T[47]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.208454831_208454832insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208454831_208454832insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208454831_208454832insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208454831_208454832insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.65206_65216del, NG_023299.1:g.65207_65216del, NG_023299.1:g.65208_65216del, NG_023299.1:g.65210_65216del, NG_023299.1:g.65211_65216del, NG_023299.1:g.65212_65216del, NG_023299.1:g.65213_65216del, NG_023299.1:g.65215_65216del, NG_023299.1:g.65216del, NG_023299.1:g.65216dup, NG_023299.1:g.65215_65216dup, NG_023299.1:g.65214_65216dup, NG_023299.1:g.65213_65216dup, NG_023299.1:g.65212_65216dup, NG_023299.1:g.65211_65216dup, NG_023299.1:g.65210_65216dup, NG_023299.1:g.65209_65216dup, NG_023299.1:g.65208_65216dup, NG_023299.1:g.65198_65216dup, NG_023299.1:g.65197_65216dup, NG_023299.1:g.65196_65216dup, NG_023299.1:g.65193_65216T[47]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_023299.1:g.65216_65217insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.65216_65217insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.65216_65217insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.65216_65217insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149137938512.

rs1491379385 has merged into rs58013876 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT [Show Flanks]
Chromosome:: 2:207588738 (GRCh38)
2:208453462 (GRCh37)
Canonical SPDI:: NC_000002.12:207588728:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:207588728:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:207588728:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:207588728:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:207588728:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:207588728:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: CREB1 (Varview), METTL21A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.207588738_207588742del, NC_000002.12:g.207588739_207588742del, NC_000002.12:g.207588740_207588742del, NC_000002.12:g.207588741_207588742del, NC_000002.12:g.207588742del, NC_000002.12:g.207588742dup, NC_000002.11:g.208453462_208453466del, NC_000002.11:g.208453463_208453466del, NC_000002.11:g.208453464_208453466del, NC_000002.11:g.208453465_208453466del, NC_000002.11:g.208453466del, NC_000002.11:g.208453466dup, NG_023299.1:g.63847_63851del, NG_023299.1:g.63848_63851del, NG_023299.1:g.63849_63851del, NG_023299.1:g.63850_63851del, NG_023299.1:g.63851del, NG_023299.1:g.63851dup

Select item 149130439713.

rs1491304397 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:207576241 (GRCh38)
2:208440965 (GRCh37)
Canonical SPDI:: NC_000002.12:207576240:CT:
Gene:: CREB1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.207576241_207576242del, NC_000002.11:g.208440965_208440966del, NG_023299.1:g.51350_51351del

Select item 149129850114.

rs1491298501 has merged into rs528614868 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:207539222 (GRCh38)
2:208403946 (GRCh37)
Canonical SPDI:: NC_000002.12:207539207:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:207539207:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:207539207:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:207539207:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:207539207:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:207539207:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:207539207:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207539207:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207539207:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207539207:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207539207:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207539207:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207539207:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:207539207:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CREB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.09685/485 (1000Genomes)
HGVS:: NC_000002.12:g.207539222_207539225del, NC_000002.12:g.207539223_207539225del, NC_000002.12:g.207539224_207539225del, NC_000002.12:g.207539225del, NC_000002.12:g.207539225dup, NC_000002.12:g.207539224_207539225dup, NC_000002.12:g.207539223_207539225dup, NC_000002.12:g.207539221_207539225dup, NC_000002.12:g.207539220_207539225dup, NC_000002.12:g.207539219_207539225dup, NC_000002.12:g.207539217_207539225dup, NC_000002.12:g.207539215_207539225dup, NC_000002.12:g.207539209_207539225dup, NC_000002.12:g.207539225_207539226insTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.208403946_208403949del, NC_000002.11:g.208403947_208403949del, NC_000002.11:g.208403948_208403949del, NC_000002.11:g.208403949del, NC_000002.11:g.208403949dup, NC_000002.11:g.208403948_208403949dup, NC_000002.11:g.208403947_208403949dup, NC_000002.11:g.208403945_208403949dup, NC_000002.11:g.208403944_208403949dup, NC_000002.11:g.208403943_208403949dup, NC_000002.11:g.208403941_208403949dup, NC_000002.11:g.208403939_208403949dup, NC_000002.11:g.208403933_208403949dup, NC_000002.11:g.208403949_208403950insTTTTTTTTTTTTTTTTTTT, NG_023299.1:g.14331_14334del, NG_023299.1:g.14332_14334del, NG_023299.1:g.14333_14334del, NG_023299.1:g.14334del, NG_023299.1:g.14334dup, NG_023299.1:g.14333_14334dup, NG_023299.1:g.14332_14334dup, NG_023299.1:g.14330_14334dup, NG_023299.1:g.14329_14334dup, NG_023299.1:g.14328_14334dup, NG_023299.1:g.14326_14334dup, NG_023299.1:g.14324_14334dup, NG_023299.1:g.14318_14334dup, NG_023299.1:g.14334_14335insTTTTTTTTTTTTTTTTTTT

Select item 149129373915.

rs1491293739 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 149125870416.

rs1491258704 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:207590083 (GRCh38)
2:208454807 (GRCh37)
Canonical SPDI:: NC_000002.12:207590082:GT:
Gene:: CREB1 (Varview), METTL21A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000002.12:g.207590083_207590084del, NC_000002.11:g.208454807_208454808del, NG_023299.1:g.65192_65193del

Select item 149124669917.

rs1491246699 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:207540668 (GRCh38)
2:208405392 (GRCh37)
Canonical SPDI:: NC_000002.12:207540667:GT:
Gene:: CREB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00489/58 (ALFA)
-=0.00015/2 (TOMMO)
HGVS:: NC_000002.12:g.207540668_207540669del, NC_000002.11:g.208405392_208405393del, NG_023299.1:g.15777_15778del

Select item 149122220218.

rs1491222202 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 2:207600239 (GRCh38)
2:208464964 (GRCh37)
Canonical SPDI:: NC_000002.12:207600239:T:TGT
Gene:: CREB1 (Varview), METTL21A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.207600240_207600241insGT, NC_000002.11:g.208464964_208464965insGT, NG_023299.1:g.75349_75350insGT, NM_134442.5:c.*3182_*3183insGT, NM_134442.4:c.*3182_*3183insGT, NM_134442.3:c.*3182_*3183insGT, NM_004379.5:c.*3182_*3183insGT, NM_004379.4:c.*3182_*3183insGT, NM_004379.3:c.*3182_*3183insGT, NR_135473.2:n.2793_2794insGT, NR_135473.1:n.2863_2864insGT, NM_001371426.1:c.*3182_*3183insGT, NM_001371427.1:c.*3182_*3183insGT, NM_001371428.1:c.*3182_*3183insGT, NR_163946.1:n.2751_2752insGT, NR_163947.1:n.2635_2636insGT, XM_011510646.4:c.*3283_*3284insGT, XM_011510646.3:c.*3283_*3284insGT, XM_011510646.2:c.*3283_*3284insGT, XM_011510650.4:c.*3182_*3183insGT, XM_011510650.3:c.*3182_*3183insGT, XM_011510650.2:c.*3182_*3183insGT, XM_011510650.1:c.*3182_*3183insGT, XM_017003401.3:c.*3182_*3183insGT, XM_017003401.2:c.*3182_*3183insGT, XM_017003401.1:c.*3182_*3183insGT, XM_047443435.1:c.*3182_*3183insGT, XM_047443437.1:c.*3283_*3284insGT, XM_047443436.1:c.*3283_*3284insGT, XM_047443444.1:c.*3182_*3183insGT

Select item 149121931419.

rs1491219314 has merged into rs903929048 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:207558655 (GRCh38)
2:208423379 (GRCh37)
Canonical SPDI:: NC_000002.12:207558643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:207558643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:207558643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:207558643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:207558643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:207558643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:207558643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:207558643:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CREB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.207558655_207558661del, NC_000002.12:g.207558658_207558661del, NC_000002.12:g.207558659_207558661del, NC_000002.12:g.207558660_207558661del, NC_000002.12:g.207558661del, NC_000002.12:g.207558661dup, NC_000002.12:g.207558660_207558661dup, NC_000002.12:g.207558656_207558661dup, NC_000002.11:g.208423379_208423385del, NC_000002.11:g.208423382_208423385del, NC_000002.11:g.208423383_208423385del, NC_000002.11:g.208423384_208423385del, NC_000002.11:g.208423385del, NC_000002.11:g.208423385dup, NC_000002.11:g.208423384_208423385dup, NC_000002.11:g.208423380_208423385dup, NG_023299.1:g.33764_33770del, NG_023299.1:g.33767_33770del, NG_023299.1:g.33768_33770del, NG_023299.1:g.33769_33770del, NG_023299.1:g.33770del, NG_023299.1:g.33770dup, NG_023299.1:g.33769_33770dup, NG_023299.1:g.33765_33770dup

Select item 149118876720.

rs1491188767 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT [Show Flanks]
Chromosome:: 2:207587587 (GRCh38)
2:208452312 (GRCh37)
Canonical SPDI:: NC_000002.12:207587587::TT
Gene:: CREB1 (Varview), METTL21A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0.0002/1 (ALFA)
TT=0.0002/1 (Estonian)
HGVS:: NC_000002.12:g.207587587_207587588insTT, NC_000002.11:g.208452311_208452312insTT, NG_023299.1:g.62696_62697insTT

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