Links from Gene
Items: 1 to 20 of 15486
1.
rs1491587502 has merged into rs60571172 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:125543137
(GRCh38)
3:125261981
(GRCh37)
- Canonical SPDI:
- NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125543124:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OSBPL11 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
NC_000003.12:g.125543137_125543149del, NC_000003.12:g.125543138_125543149del, NC_000003.12:g.125543139_125543149del, NC_000003.12:g.125543140_125543149del, NC_000003.12:g.125543141_125543149del, NC_000003.12:g.125543142_125543149del, NC_000003.12:g.125543143_125543149del, NC_000003.12:g.125543144_125543149del, NC_000003.12:g.125543145_125543149del, NC_000003.12:g.125543146_125543149del, NC_000003.12:g.125543147_125543149del, NC_000003.12:g.125543148_125543149del, NC_000003.12:g.125543149del, NC_000003.12:g.125543149dup, NC_000003.12:g.125543148_125543149dup, NC_000003.12:g.125543147_125543149dup, NC_000003.12:g.125543146_125543149dup, NC_000003.12:g.125543145_125543149dup, NC_000003.12:g.125543144_125543149dup, NC_000003.12:g.125543143_125543149dup, NC_000003.12:g.125543142_125543149dup, NC_000003.12:g.125543141_125543149dup, NC_000003.12:g.125543140_125543149dup, NC_000003.12:g.125543133_125543149dup, NC_000003.12:g.125543126_125543149dup, NC_000003.12:g.125543125_125543149dup, NC_000003.12:g.125543149_125543150insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.125543149_125543150insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.125543149_125543150insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.125543149_125543150insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.125543149_125543150insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.125543149_125543150insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.125543149_125543150insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.125543149_125543150insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.125261981_125261993del, NC_000003.11:g.125261982_125261993del, NC_000003.11:g.125261983_125261993del, NC_000003.11:g.125261984_125261993del, NC_000003.11:g.125261985_125261993del, NC_000003.11:g.125261986_125261993del, NC_000003.11:g.125261987_125261993del, NC_000003.11:g.125261988_125261993del, NC_000003.11:g.125261989_125261993del, NC_000003.11:g.125261990_125261993del, NC_000003.11:g.125261991_125261993del, NC_000003.11:g.125261992_125261993del, NC_000003.11:g.125261993del, NC_000003.11:g.125261993dup, NC_000003.11:g.125261992_125261993dup, NC_000003.11:g.125261991_125261993dup, NC_000003.11:g.125261990_125261993dup, NC_000003.11:g.125261989_125261993dup, NC_000003.11:g.125261988_125261993dup, NC_000003.11:g.125261987_125261993dup, NC_000003.11:g.125261986_125261993dup, NC_000003.11:g.125261985_125261993dup, NC_000003.11:g.125261984_125261993dup, NC_000003.11:g.125261977_125261993dup, NC_000003.11:g.125261970_125261993dup, NC_000003.11:g.125261969_125261993dup, NC_000003.11:g.125261993_125261994insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.125261993_125261994insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.125261993_125261994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.125261993_125261994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.125261993_125261994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.125261993_125261994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.125261993_125261994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.125261993_125261994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491537474 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:125580514
(GRCh38)
3:125299358
(GRCh37)
- Canonical SPDI:
- NC_000003.12:125580513:CA:
- Gene:
- OSBPL11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00034/4
(
ALFA)
-=0.00075/21
(TOMMO)
- HGVS:
3.
rs1491527785 has merged into rs935625119 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TT,TTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 3:125566801
(GRCh38)
3:125285645
(GRCh37)
- Canonical SPDI:
- NC_000003.12:125566794:TTTTTTTTTT:TTTTTT,NC_000003.12:125566794:TTTTTTTTTT:TTTTTTTT,NC_000003.12:125566794:TTTTTTTTTT:TTTTTTTTT,NC_000003.12:125566794:TTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:125566794:TTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- OSBPL11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.00874/16
(Korea1K)
- HGVS:
4.
rs1491524996 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TGAGAAG
[Show Flanks]
- Chromosome:
- 3:125535463
(GRCh38)
3:125254308
(GRCh37)
- Canonical SPDI:
- NC_000003.12:125535463::TGAGAAG
- Gene:
- OSBPL11 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TGAGAAG=0./0
(
ALFA)
TGAGAAG=0.000004/1
(TOPMED)
- HGVS:
5.
rs1491517952 has merged into rs35801148 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:125542521
(GRCh38)
3:125261365
(GRCh37)
- Canonical SPDI:
- NC_000003.12:125542509:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:125542509:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:125542509:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:125542509:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:125542509:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:125542509:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:125542509:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:125542509:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:125542509:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OSBPL11 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.3/12
(GENOME_DK)
- HGVS:
NC_000003.12:g.125542521_125542526del, NC_000003.12:g.125542523_125542526del, NC_000003.12:g.125542524_125542526del, NC_000003.12:g.125542525_125542526del, NC_000003.12:g.125542526del, NC_000003.12:g.125542526dup, NC_000003.12:g.125542525_125542526dup, NC_000003.12:g.125542524_125542526dup, NC_000003.12:g.125542519_125542526dup, NC_000003.11:g.125261365_125261370del, NC_000003.11:g.125261367_125261370del, NC_000003.11:g.125261368_125261370del, NC_000003.11:g.125261369_125261370del, NC_000003.11:g.125261370del, NC_000003.11:g.125261370dup, NC_000003.11:g.125261369_125261370dup, NC_000003.11:g.125261368_125261370dup, NC_000003.11:g.125261363_125261370dup
6.
rs1491492884 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 3:125573010
(GRCh38)
3:125291854
(GRCh37)
- Canonical SPDI:
- NC_000003.12:125573009:AG:
- Gene:
- OSBPL11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
7.
rs1491490318 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 3:125550407
(GRCh38)
3:125269251
(GRCh37)
- Canonical SPDI:
- NC_000003.12:125550406:AA:
- Gene:
- OSBPL11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00008/8
(GnomAD)
- HGVS:
8.
rs1491437565 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 3:125572818
(GRCh38)
3:125291663
(GRCh37)
- Canonical SPDI:
- NC_000003.12:125572818::A
- Gene:
- OSBPL11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000169/2
(
ALFA)
A=0.000144/17
(GnomAD)
- HGVS:
9.
rs1491409668 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 3:125542510
(GRCh38)
3:125261355
(GRCh37)
- Canonical SPDI:
- NC_000003.12:125542510::A
- Gene:
- OSBPL11 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1491401052 has merged into rs576188809 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:125595850
(GRCh38)
3:125314694
(GRCh37)
- Canonical SPDI:
- NC_000003.12:125595841:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:125595841:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:125595841:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:125595841:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:125595841:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:125595841:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:125595841:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:125595841:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:125595841:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125595841:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125595841:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125595841:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125595841:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125595841:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125595841:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125595841:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125595841:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125595841:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OSBPL11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
T=0.1589/796
(1000Genomes)
- HGVS:
NC_000003.12:g.125595850_125595861del, NC_000003.12:g.125595852_125595861del, NC_000003.12:g.125595854_125595861del, NC_000003.12:g.125595856_125595861del, NC_000003.12:g.125595858_125595861del, NC_000003.12:g.125595859_125595861del, NC_000003.12:g.125595860_125595861del, NC_000003.12:g.125595861del, NC_000003.12:g.125595861dup, NC_000003.12:g.125595860_125595861dup, NC_000003.12:g.125595859_125595861dup, NC_000003.12:g.125595858_125595861dup, NC_000003.12:g.125595857_125595861dup, NC_000003.12:g.125595854_125595861dup, NC_000003.12:g.125595853_125595861dup, NC_000003.12:g.125595852_125595861dup, NC_000003.12:g.125595850_125595861dup, NC_000003.12:g.125595845_125595861dup, NC_000003.11:g.125314694_125314705del, NC_000003.11:g.125314696_125314705del, NC_000003.11:g.125314698_125314705del, NC_000003.11:g.125314700_125314705del, NC_000003.11:g.125314702_125314705del, NC_000003.11:g.125314703_125314705del, NC_000003.11:g.125314704_125314705del, NC_000003.11:g.125314705del, NC_000003.11:g.125314705dup, NC_000003.11:g.125314704_125314705dup, NC_000003.11:g.125314703_125314705dup, NC_000003.11:g.125314702_125314705dup, NC_000003.11:g.125314701_125314705dup, NC_000003.11:g.125314698_125314705dup, NC_000003.11:g.125314697_125314705dup, NC_000003.11:g.125314696_125314705dup, NC_000003.11:g.125314694_125314705dup, NC_000003.11:g.125314689_125314705dup
11.
rs1491322285 has merged into rs63379662 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG
[Show Flanks]
- Chromosome:
- 3:125596284
(GRCh38)
3:125315128
(GRCh37)
- Canonical SPDI:
- NC_000003.12:125596275:GGGGGGGGGG:GGGGGGGG,NC_000003.12:125596275:GGGGGGGGGG:GGGGGGGGG,NC_000003.12:125596275:GGGGGGGGGG:GGGGGGGGGGG,NC_000003.12:125596275:GGGGGGGGGG:GGGGGGGGGGGG,NC_000003.12:125596275:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000003.12:125596275:GGGGGGGGGG:GGGGGGGGGGGGGG,NC_000003.12:125596275:GGGGGGGGGG:GGGGGGGGGGGGGGG
- Gene:
- OSBPL11 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGGGGGGG=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.125596284_125596285del, NC_000003.12:g.125596285del, NC_000003.12:g.125596285dup, NC_000003.12:g.125596284_125596285dup, NC_000003.12:g.125596283_125596285dup, NC_000003.12:g.125596282_125596285dup, NC_000003.12:g.125596281_125596285dup, NC_000003.11:g.125315128_125315129del, NC_000003.11:g.125315129del, NC_000003.11:g.125315129dup, NC_000003.11:g.125315128_125315129dup, NC_000003.11:g.125315127_125315129dup, NC_000003.11:g.125315126_125315129dup, NC_000003.11:g.125315125_125315129dup
13.
rs1491245278 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 3:125550407
(GRCh38)
3:125269252
(GRCh37)
- Canonical SPDI:
- NC_000003.12:125550407::C
- Gene:
- OSBPL11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000008/1
(GnomAD)
- HGVS:
14.
rs1491241840 has merged into rs56164804 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAAAAAAAGAGAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAATAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAATATTTAAAAATAAAAGAAAAAAAAAAAAAATAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAATAAATAAAAAAAAAAAGAGAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAATATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAATAATTAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAATTATAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAATATTTAAAAAAAAAAGAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAATATTTAAAAATTAAAGAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:125534961
(GRCh38)
3:125253805
(GRCh37)
- Canonical SPDI:
- NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAAAAAAAGAGAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATTTAAAAATAAAAGAAAAAAAAAAAAAATAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAATAAAAAAAAAAAGAGAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATTAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTATAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATTTAAAAAAAAAAGAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATTTAAAAATTAAAGAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125534951:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- OSBPL11 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.4704/2356
(1000Genomes)
- HGVS:
NC_000003.12:g.125534961_125534977del, NC_000003.12:g.125534964_125534977del, NC_000003.12:g.125534965_125534977del, NC_000003.12:g.125534966_125534977del, NC_000003.12:g.125534967_125534977del, NC_000003.12:g.125534968_125534977del, NC_000003.12:g.125534969_125534977del, NC_000003.12:g.125534970_125534977del, NC_000003.12:g.125534971_125534977del, NC_000003.12:g.125534972_125534977del, NC_000003.12:g.125534973_125534977del, NC_000003.12:g.125534974_125534977del, NC_000003.12:g.125534975_125534977del, NC_000003.12:g.125534976_125534977del, NC_000003.12:g.125534977del, NC_000003.12:g.125534977dup, NC_000003.12:g.125534976_125534977dup, NC_000003.12:g.125534975_125534977dup, NC_000003.12:g.125534974_125534977dup, NC_000003.12:g.125534973_125534977dup, NC_000003.12:g.125534972_125534977dup, NC_000003.12:g.125534971_125534977dup, NC_000003.12:g.125534970_125534977dup, NC_000003.12:g.125534969_125534977dup, NC_000003.12:g.125534968_125534977dup, NC_000003.12:g.125534967_125534977dup, NC_000003.12:g.125534966_125534977dup, NC_000003.12:g.125534965_125534977dup, NC_000003.12:g.125534964_125534977dup, NC_000003.12:g.125534963_125534977dup, NC_000003.12:g.125534962_125534977dup, NC_000003.12:g.125534961_125534977dup, NC_000003.12:g.125534960_125534977dup, NC_000003.12:g.125534959_125534977dup, NC_000003.12:g.125534958_125534977dup, NC_000003.12:g.125534957_125534977dup, NC_000003.12:g.125534955_125534977dup, NC_000003.12:g.125534954_125534977dup, NC_000003.12:g.125534952_125534977dup, NC_000003.12:g.125534977_125534978insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.125534977_125534978insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.125534977_125534978insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.125534952_125534977A[39]TTAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[38]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[38]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[38]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[38]TAAAAAAA[2]A[35], NC_000003.12:g.125534952_125534977A[37]TTTAAAAAAAAAAGAGAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[36]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[36]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[36]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[35]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[35]TAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[35]TATTTAAAAATAAAAGAAAAAAAAAAAAAATAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[35]TTAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[35]TTAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[34]TAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[34]TAAA[2]A[8]GA[2]A[13]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[34]TATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[34]TTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[33]TAATTAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[33]TTATAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[32]TATTTAAAAAAAAAAGAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[32]TATTTAAAAATTAAAGAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.125534952_125534977A[31]TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253805_125253821del, NC_000003.11:g.125253808_125253821del, NC_000003.11:g.125253809_125253821del, NC_000003.11:g.125253810_125253821del, NC_000003.11:g.125253811_125253821del, NC_000003.11:g.125253812_125253821del, NC_000003.11:g.125253813_125253821del, NC_000003.11:g.125253814_125253821del, NC_000003.11:g.125253815_125253821del, NC_000003.11:g.125253816_125253821del, NC_000003.11:g.125253817_125253821del, NC_000003.11:g.125253818_125253821del, NC_000003.11:g.125253819_125253821del, NC_000003.11:g.125253820_125253821del, NC_000003.11:g.125253821del, NC_000003.11:g.125253821dup, NC_000003.11:g.125253820_125253821dup, NC_000003.11:g.125253819_125253821dup, NC_000003.11:g.125253818_125253821dup, NC_000003.11:g.125253817_125253821dup, NC_000003.11:g.125253816_125253821dup, NC_000003.11:g.125253815_125253821dup, NC_000003.11:g.125253814_125253821dup, NC_000003.11:g.125253813_125253821dup, NC_000003.11:g.125253812_125253821dup, NC_000003.11:g.125253811_125253821dup, NC_000003.11:g.125253810_125253821dup, NC_000003.11:g.125253809_125253821dup, NC_000003.11:g.125253808_125253821dup, NC_000003.11:g.125253807_125253821dup, NC_000003.11:g.125253806_125253821dup, NC_000003.11:g.125253805_125253821dup, NC_000003.11:g.125253804_125253821dup, NC_000003.11:g.125253803_125253821dup, NC_000003.11:g.125253802_125253821dup, NC_000003.11:g.125253801_125253821dup, NC_000003.11:g.125253799_125253821dup, NC_000003.11:g.125253798_125253821dup, NC_000003.11:g.125253796_125253821dup, NC_000003.11:g.125253821_125253822insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.125253821_125253822insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.125253821_125253822insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.125253796_125253821A[39]TTAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[38]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[38]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[38]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[38]TAAAAAAA[2]A[35], NC_000003.11:g.125253796_125253821A[37]TTTAAAAAAAAAAGAGAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[36]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[36]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[36]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[35]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[35]TAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[35]TATTTAAAAATAAAAGAAAAAAAAAAAAAATAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[35]TTAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[35]TTAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[34]TAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[34]TAAA[2]A[8]GA[2]A[13]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[34]TATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[34]TTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[33]TAATTAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[33]TTATAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[32]TATTTAAAAAAAAAAGAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[32]TATTTAAAAATTAAAGAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.125253796_125253821A[31]TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
15.
rs1491240994 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:125543124
(GRCh38)
3:125261968
(GRCh37)
- Canonical SPDI:
- NC_000003.12:125543123:AT:
- Gene:
- OSBPL11 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000235/28
(GnomAD)
- HGVS:
16.
rs1491217749 has merged into rs11295103 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:125557800
(GRCh38)
3:125276644
(GRCh37)
- Canonical SPDI:
- NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125557791:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OSBPL11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.2/8
(GENOME_DK)
- HGVS:
NC_000003.12:g.125557800_125557815del, NC_000003.12:g.125557801_125557815del, NC_000003.12:g.125557802_125557815del, NC_000003.12:g.125557803_125557815del, NC_000003.12:g.125557804_125557815del, NC_000003.12:g.125557805_125557815del, NC_000003.12:g.125557806_125557815del, NC_000003.12:g.125557807_125557815del, NC_000003.12:g.125557808_125557815del, NC_000003.12:g.125557809_125557815del, NC_000003.12:g.125557810_125557815del, NC_000003.12:g.125557811_125557815del, NC_000003.12:g.125557812_125557815del, NC_000003.12:g.125557813_125557815del, NC_000003.12:g.125557814_125557815del, NC_000003.12:g.125557815del, NC_000003.12:g.125557815dup, NC_000003.12:g.125557814_125557815dup, NC_000003.12:g.125557813_125557815dup, NC_000003.12:g.125557812_125557815dup, NC_000003.12:g.125557811_125557815dup, NC_000003.12:g.125557810_125557815dup, NC_000003.12:g.125557809_125557815dup, NC_000003.12:g.125557808_125557815dup, NC_000003.12:g.125557807_125557815dup, NC_000003.12:g.125557806_125557815dup, NC_000003.12:g.125557805_125557815dup, NC_000003.12:g.125557804_125557815dup, NC_000003.12:g.125557801_125557815dup, NC_000003.12:g.125557792_125557815dup, NC_000003.12:g.125557815_125557816insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.125557815_125557816insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.125276644_125276659del, NC_000003.11:g.125276645_125276659del, NC_000003.11:g.125276646_125276659del, NC_000003.11:g.125276647_125276659del, NC_000003.11:g.125276648_125276659del, NC_000003.11:g.125276649_125276659del, NC_000003.11:g.125276650_125276659del, NC_000003.11:g.125276651_125276659del, NC_000003.11:g.125276652_125276659del, NC_000003.11:g.125276653_125276659del, NC_000003.11:g.125276654_125276659del, NC_000003.11:g.125276655_125276659del, NC_000003.11:g.125276656_125276659del, NC_000003.11:g.125276657_125276659del, NC_000003.11:g.125276658_125276659del, NC_000003.11:g.125276659del, NC_000003.11:g.125276659dup, NC_000003.11:g.125276658_125276659dup, NC_000003.11:g.125276657_125276659dup, NC_000003.11:g.125276656_125276659dup, NC_000003.11:g.125276655_125276659dup, NC_000003.11:g.125276654_125276659dup, NC_000003.11:g.125276653_125276659dup, NC_000003.11:g.125276652_125276659dup, NC_000003.11:g.125276651_125276659dup, NC_000003.11:g.125276650_125276659dup, NC_000003.11:g.125276649_125276659dup, NC_000003.11:g.125276648_125276659dup, NC_000003.11:g.125276645_125276659dup, NC_000003.11:g.125276636_125276659dup, NC_000003.11:g.125276659_125276660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.125276659_125276660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
17.
rs1491215032 has merged into rs56041212 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:125580525
(GRCh38)
3:125299369
(GRCh37)
- Canonical SPDI:
- NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:125580514:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- OSBPL11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.125580525_125580541del, NC_000003.12:g.125580528_125580541del, NC_000003.12:g.125580529_125580541del, NC_000003.12:g.125580531_125580541del, NC_000003.12:g.125580532_125580541del, NC_000003.12:g.125580533_125580541del, NC_000003.12:g.125580534_125580541del, NC_000003.12:g.125580535_125580541del, NC_000003.12:g.125580536_125580541del, NC_000003.12:g.125580537_125580541del, NC_000003.12:g.125580538_125580541del, NC_000003.12:g.125580539_125580541del, NC_000003.12:g.125580540_125580541del, NC_000003.12:g.125580541del, NC_000003.12:g.125580541dup, NC_000003.12:g.125580540_125580541dup, NC_000003.12:g.125580539_125580541dup, NC_000003.12:g.125580536_125580541dup, NC_000003.12:g.125580534_125580541dup, NC_000003.12:g.125580533_125580541dup, NC_000003.12:g.125580531_125580541dup, NC_000003.11:g.125299369_125299385del, NC_000003.11:g.125299372_125299385del, NC_000003.11:g.125299373_125299385del, NC_000003.11:g.125299375_125299385del, NC_000003.11:g.125299376_125299385del, NC_000003.11:g.125299377_125299385del, NC_000003.11:g.125299378_125299385del, NC_000003.11:g.125299379_125299385del, NC_000003.11:g.125299380_125299385del, NC_000003.11:g.125299381_125299385del, NC_000003.11:g.125299382_125299385del, NC_000003.11:g.125299383_125299385del, NC_000003.11:g.125299384_125299385del, NC_000003.11:g.125299385del, NC_000003.11:g.125299385dup, NC_000003.11:g.125299384_125299385dup, NC_000003.11:g.125299383_125299385dup, NC_000003.11:g.125299380_125299385dup, NC_000003.11:g.125299378_125299385dup, NC_000003.11:g.125299377_125299385dup, NC_000003.11:g.125299375_125299385dup
18.
rs1491137223 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 3:125596276
(GRCh38)
3:125315121
(GRCh37)
- Canonical SPDI:
- NC_000003.12:125596276::A
- Gene:
- OSBPL11 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000049/1
(GnomAD)
- HGVS:
19.
rs1491101370 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 3:125535463
(GRCh38)
3:125254307
(GRCh37)
- Canonical SPDI:
- NC_000003.12:125535462:TG:
- Gene:
- OSBPL11 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00118/14
(
ALFA)
-=0.00006/8
(GnomAD)
- HGVS: