SNP Links for Gene (Select 100506994) - SNP

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Select item 14915647911.

rs1491564791 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 3:62315050 (GRCh38)
3:62300725 (GRCh37)
Canonical SPDI:: NC_000003.12:62315048:CTC:C
Gene:: PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0003/1 (ALSPAC)
-=0.0016/6 (TWINSUK)
HGVS:: NC_000003.12:g.62315050_62315051del, NC_000003.11:g.62300725_62300726del

Select item 14915494832.

rs1491549483 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 3:62265874 (GRCh38)
3:62251550 (GRCh37)
Canonical SPDI:: NC_000003.12:62265874:CG:CGCG
Gene:: PTPRG (Varview), PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CGCG=0./0 (ALFA)
CG=0.00001/1 (GnomAD)
HGVS:: NC_000003.12:g.62265875_62265876dup, NC_000003.11:g.62251550_62251551dup

Select item 14915069853.

rs1491506985 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:62296494 (GRCh38)
3:62282169 (GRCh37)
Canonical SPDI:: NC_000003.12:62296493:TA:
Gene:: PTPRG (Varview), PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.00006/16 (TOPMED)
HGVS:: NC_000003.12:g.62296494_62296495del, NC_000003.11:g.62282169_62282170del, NM_002841.4:c.*3187_*3188del, XM_017006961.2:c.*3187_*3188del, XM_017006961.1:c.*3187_*3188del, XM_017006963.2:c.*3187_*3188del, XM_017006963.1:c.*3187_*3188del, XM_047448645.1:c.*3187_*3188del, NM_001375471.1:c.*3187_*3188del, XM_047448646.1:c.*3187_*3188del, XM_017006962.1:c.*3187_*3188del

Select item 14914327714.

rs1491432771 has merged into rs531868189 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 3:62312745 (GRCh38)
3:62298420 (GRCh37)
Canonical SPDI:: NC_000003.12:62312733:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:62312733:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:62312733:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:62312733:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:62312733:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:62312733:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.275/11 (GENOME_DK)
HGVS:: NC_000003.12:g.62312745_62312748del, NC_000003.12:g.62312746_62312748del, NC_000003.12:g.62312747_62312748del, NC_000003.12:g.62312748del, NC_000003.12:g.62312748dup, NC_000003.12:g.62312747_62312748dup, NC_000003.11:g.62298420_62298423del, NC_000003.11:g.62298421_62298423del, NC_000003.11:g.62298422_62298423del, NC_000003.11:g.62298423del, NC_000003.11:g.62298423dup, NC_000003.11:g.62298422_62298423dup

Select item 14913940455.

rs1491394045 has merged into rs60919586 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTT,TTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTT,TTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTT,TTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTT,TTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTT,TTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:62281549 (GRCh38)
3:62267224 (GRCh37)
Canonical SPDI:: NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:62281538:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PTPRG (Varview), PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.1853/928 (1000Genomes)
HGVS:: NC_000003.12:g.62281549_62281551del, NC_000003.12:g.62281550_62281551del, NC_000003.12:g.62281551del, NC_000003.12:g.62281539_62281551T[13]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.62281551dup, NC_000003.12:g.62281539_62281551T[14]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.62281550_62281551dup, NC_000003.12:g.62281539_62281551T[15]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.62281549_62281551dup, NC_000003.12:g.62281539_62281551T[16]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.62281548_62281551dup, NC_000003.12:g.62281539_62281551T[17]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.62281547_62281551dup, NC_000003.12:g.62281539_62281551T[18]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.62281546_62281551dup, NC_000003.12:g.62281545_62281551dup, NC_000003.12:g.62281544_62281551dup, NC_000003.12:g.62281543_62281551dup, NC_000003.12:g.62281542_62281551dup, NC_000003.12:g.62281541_62281551dup, NC_000003.12:g.62281540_62281551dup, NC_000003.12:g.62281539_62281551dup, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281539_62281551T[33]GTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281539_62281551T[40]ATTTTTTTTTTTTTTTT[1], NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.62281551_62281552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267224_62267226del, NC_000003.11:g.62267225_62267226del, NC_000003.11:g.62267226del, NC_000003.11:g.62267214_62267226T[13]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.62267226dup, NC_000003.11:g.62267214_62267226T[14]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.62267225_62267226dup, NC_000003.11:g.62267214_62267226T[15]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.62267224_62267226dup, NC_000003.11:g.62267214_62267226T[16]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.62267223_62267226dup, NC_000003.11:g.62267214_62267226T[17]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.62267222_62267226dup, NC_000003.11:g.62267214_62267226T[18]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.62267221_62267226dup, NC_000003.11:g.62267220_62267226dup, NC_000003.11:g.62267219_62267226dup, NC_000003.11:g.62267218_62267226dup, NC_000003.11:g.62267217_62267226dup, NC_000003.11:g.62267216_62267226dup, NC_000003.11:g.62267215_62267226dup, NC_000003.11:g.62267214_62267226dup, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267214_62267226T[33]GTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267214_62267226T[40]ATTTTTTTTTTTTTTTT[1], NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.62267226_62267227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912784496.

rs1491278449 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTTTTTTTTTTTGTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:62281539 (GRCh38)
3:62267215 (GRCh37)
Canonical SPDI:: NC_000003.12:62281539:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTT
Gene:: PTPRG (Varview), PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TTTTTTTTTTTTTTTTTTTTTTTTTTG=0.08764/2803 (GnomAD_exomes)
HGVS:: NC_000003.12:g.62281540_62281551T[26]GTTTTTTTTTTTT[1], NC_000003.11:g.62267215_62267226T[26]GTTTTTTTTTTTT[1]

Select item 14912372417.

rs1491237241 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAACTTAAAAGATAGGATACTAG [Show Flanks]
Chromosome:: 3:62287513 (GRCh38)
3:62273189 (GRCh37)
Canonical SPDI:: NC_000003.12:62287513:AAAACTTAAAAGATAGGATACTAG:AAAACTTAAAAGATAGGATACTAGAAAACTTAAAAGATAGGATACTAG
Gene:: PTPRG (Varview), PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAACTTAAAAGATAGGATACTAGAAAACTTAAAAGATAGGATACTAG=0./0 (ALFA)
AAAACTTAAAAGATAGGATACTAG=0.000007/1 (GnomAD)
AAAACTTAAAAGATAGGATACTAG=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.62287514_62287537dup, NC_000003.11:g.62273189_62273212dup

Select item 14911571488.

rs1491157148 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG,TG [Show Flanks]
Chromosome:: 3:62285525 (GRCh38)
3:62271201 (GRCh37)
Canonical SPDI:: NC_000003.12:62285525:G:GCG,NC_000003.12:62285525:G:GTG
Gene:: PTPRG (Varview), PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTG=0./0 (ALFA)
HGVS:: NC_000003.12:g.62285526_62285527insCG, NC_000003.12:g.62285526_62285527insTG, NC_000003.11:g.62271201_62271202insCG, NC_000003.11:g.62271201_62271202insTG

Select item 14910818289.

rs1491081828 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:62288158 (GRCh38)
3:62273833 (GRCh37)
Canonical SPDI:: NC_000003.12:62288156:ACA:A
Gene:: PTPRG (Varview), PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000106/2 (TOMMO)
HGVS:: NC_000003.12:g.62288158_62288159del, NC_000003.11:g.62273833_62273834del

Select item 149103850410.

rs1491038504 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 3:62265875 (GRCh38)
3:62251550 (GRCh37)
Canonical SPDI:: NC_000003.12:62265874:CG:
Gene:: PTPRG (Varview), PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.00014/4 (TOMMO)
HGVS:: NC_000003.12:g.62265875_62265876del, NC_000003.11:g.62251550_62251551del

Select item 149101789411.

rs1491017894 has merged into rs374405748 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:62288148 (GRCh38)
3:62273823 (GRCh37)
Canonical SPDI:: NC_000003.12:62288140:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000003.12:62288140:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:62288140:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:62288140:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:62288140:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:62288140:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:62288140:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:62288140:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:62288140:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:62288140:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:62288140:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:62288140:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:62288140:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:62288140:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PTPRG (Varview), PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000003.12:g.62288148_62288157del, NC_000003.12:g.62288149_62288157del, NC_000003.12:g.62288150_62288157del, NC_000003.12:g.62288152_62288157del, NC_000003.12:g.62288153_62288157del, NC_000003.12:g.62288154_62288157del, NC_000003.12:g.62288155_62288157del, NC_000003.12:g.62288156_62288157del, NC_000003.12:g.62288157del, NC_000003.12:g.62288157dup, NC_000003.12:g.62288156_62288157dup, NC_000003.12:g.62288155_62288157dup, NC_000003.12:g.62288153_62288157dup, NC_000003.12:g.62288157_62288158insAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.62273823_62273832del, NC_000003.11:g.62273824_62273832del, NC_000003.11:g.62273825_62273832del, NC_000003.11:g.62273827_62273832del, NC_000003.11:g.62273828_62273832del, NC_000003.11:g.62273829_62273832del, NC_000003.11:g.62273830_62273832del, NC_000003.11:g.62273831_62273832del, NC_000003.11:g.62273832del, NC_000003.11:g.62273832dup, NC_000003.11:g.62273831_62273832dup, NC_000003.11:g.62273830_62273832dup, NC_000003.11:g.62273828_62273832dup, NC_000003.11:g.62273832_62273833insAAAAAAAAAAAAAAAAAAAA

Select item 149100657512.

rs1491006575 has merged into rs555266393 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 3:62289708 (GRCh38)
3:62275383 (GRCh37)
Canonical SPDI:: NC_000003.12:62289698:CCCCCCCCCCC:CCCCCCCCC,NC_000003.12:62289698:CCCCCCCCCCC:CCCCCCCCCC,NC_000003.12:62289698:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000003.12:62289698:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000003.12:62289698:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000003.12:62289698:CCCCCCCCCCC:CCCCCCCCCCCCCCC
Gene:: PTPRG (Varview), PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCCC=0./0 (ALFA)
-=0.1384/693 (1000Genomes)
HGVS:: NC_000003.12:g.62289708_62289709del, NC_000003.12:g.62289709del, NC_000003.12:g.62289709dup, NC_000003.12:g.62289708_62289709dup, NC_000003.12:g.62289707_62289709dup, NC_000003.12:g.62289706_62289709dup, NC_000003.11:g.62275383_62275384del, NC_000003.11:g.62275384del, NC_000003.11:g.62275384dup, NC_000003.11:g.62275383_62275384dup, NC_000003.11:g.62275382_62275384dup, NC_000003.11:g.62275381_62275384dup

Select item 149097340313.

rs1490973403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:62312578 (GRCh38)
3:62298253 (GRCh37)
Canonical SPDI:: NC_000003.12:62312577:C:T
Gene:: PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.62312578C>T, NC_000003.11:g.62298253C>T

Select item 149094257314.

rs1490942573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:62313374 (GRCh38)
3:62299049 (GRCh37)
Canonical SPDI:: NC_000003.12:62313373:A:G
Gene:: PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.62313374A>G, NC_000003.11:g.62299049A>G

Select item 149092435415.

rs1490924354 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 3:62299587 (GRCh38)
3:62285262 (GRCh37)
Canonical SPDI:: NC_000003.12:62299586:TTT:TT
Gene:: PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.62299589del, NC_000003.11:g.62285264del

Select item 149089532016.

rs1490895320 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTATC [Show Flanks]
Chromosome:: 3:62269383 (GRCh38)
3:62255059 (GRCh37)
Canonical SPDI:: NC_000003.12:62269383:ATC:ATCCTATC
Gene:: PTPRG (Varview), PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATCCTATC=0./0 (ALFA)
ATCCT=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.62269386_62269387insCTATC, NC_000003.11:g.62255061_62255062insCTATC

Select item 149089528717.

rs1490895287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:62287910 (GRCh38)
3:62273585 (GRCh37)
Canonical SPDI:: NC_000003.12:62287909:G:A,NC_000003.12:62287909:G:C,NC_000003.12:62287909:G:T
Gene:: PTPRG (Varview), PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.62287910G>A, NC_000003.12:g.62287910G>C, NC_000003.12:g.62287910G>T, NC_000003.11:g.62273585G>A, NC_000003.11:g.62273585G>C, NC_000003.11:g.62273585G>T

Select item 149080839918.

rs1490808399 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 3:62269306 (GRCh38)
3:62254981 (GRCh37)
Canonical SPDI:: NC_000003.12:62269303:TTTT:TT,NC_000003.12:62269303:TTTT:TTT
Gene:: PTPRG (Varview), PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.000066/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.62269306_62269307del, NC_000003.12:g.62269307del, NC_000003.11:g.62254981_62254982del, NC_000003.11:g.62254982del

Select item 149069413019.

rs1490694130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:62305576 (GRCh38)
3:62291251 (GRCh37)
Canonical SPDI:: NC_000003.12:62305575:C:G
Gene:: PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.62305576C>G, NC_000003.11:g.62291251C>G

Select item 149069195420.

rs1490691954 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:62303195 (GRCh38)
3:62288870 (GRCh37)
Canonical SPDI:: NC_000003.12:62303194:A:G,NC_000003.12:62303194:A:T
Gene:: PTPRG-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000167/2 (GnomAD)
G=0.000284/4 (TOMMO)
HGVS:: NC_000003.12:g.62303195A>G, NC_000003.12:g.62303195A>T, NC_000003.11:g.62288870A>G, NC_000003.11:g.62288870A>T

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