SNP Links for Gene (Select 535) - SNP

Links from Gene

Items: 1 to 20 of 14739

<< First< Prev

Page of 737

Next >Last >>

Select item 14915438661.

rs1491543866 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:42488411 (GRCh38)
17:40640429 (GRCh37)
Canonical SPDI:: NC_000017.11:42488406:GAGAGA:GAGA
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.42488407GA[2], NC_000017.10:g.40640425GA[2], NG_047037.1:g.34564GA[2]

Select item 14915189672.

rs1491518967 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:42488407 (GRCh38)
17:40640426 (GRCh37)
Canonical SPDI:: NC_000017.11:42488407:A:AA
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.42488408dup, NC_000017.10:g.40640426dup, NG_047037.1:g.34565dup

Select item 14913924383.

rs1491392438 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:42515468 (GRCh38)
17:40667486 (GRCh37)
Canonical SPDI:: NC_000017.11:42515467:CA:
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.42515468_42515469del, NC_000017.10:g.40667486_40667487del, NG_047037.1:g.61625_61626del

Select item 14913867264.

rs1491386726 has merged into rs10531131 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTTTATTTT>-,ATTTT,ATTTTATTTTATTTT,ATTTTATTTTATTTTATTTT [Show Flanks]
Chromosome:: 17:42468860 (GRCh38)
17:40620878 (GRCh37)
Canonical SPDI:: NC_000017.11:42468843:TATTTTATTTTATTTTATTTTATTTT:TATTTTATTTTATTTT,NC_000017.11:42468843:TATTTTATTTTATTTTATTTTATTTT:TATTTTATTTTATTTTATTTT,NC_000017.11:42468843:TATTTTATTTTATTTTATTTTATTTT:TATTTTATTTTATTTTATTTTATTTTATTTT,NC_000017.11:42468843:TATTTTATTTTATTTTATTTTATTTT:TATTTTATTTTATTTTATTTTATTTTATTTTATTTT
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTTTATTTTATTTTATTTTATTTTATTTTATTTT=0./0 (ALFA)
-=0.330987/87609 (TOPMED)
-=0.346604/1689 (1000Genomes)
TATTT=0.390284/715 (Korea1K)
TATTT=0.45902/7693 (TOMMO)
TATTT=0.462264/98 (Vietnamese)
HGVS:: NC_000017.11:g.42468845ATTTT[3], NC_000017.11:g.42468845ATTTT[4], NC_000017.11:g.42468845ATTTT[6], NC_000017.11:g.42468845ATTTT[7], NC_000017.10:g.40620863ATTTT[3], NC_000017.10:g.40620863ATTTT[4], NC_000017.10:g.40620863ATTTT[6], NC_000017.10:g.40620863ATTTT[7], NG_047037.1:g.15002ATTTT[3], NG_047037.1:g.15002ATTTT[4], NG_047037.1:g.15002ATTTT[6], NG_047037.1:g.15002ATTTT[7]

Select item 14913025395.

rs1491302539 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 17:42484853 (GRCh38)
17:40636872 (GRCh37)
Canonical SPDI:: NC_000017.11:42484853:TTT:TTTCTTT
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTCTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.42484856_42484857insCTTT, NC_000017.10:g.40636874_40636875insCTTT, NG_047037.1:g.31013_31014insCTTT

Select item 14912612586.

rs1491261258 has merged into rs10711845 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:42484864 (GRCh38)
17:40636882 (GRCh37)
Canonical SPDI:: NC_000017.11:42484852:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:42484852:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:42484852:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:42484852:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:42484852:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:42484852:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:42484852:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:42484852:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:42484852:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0./0 (ALSPAC)
T=0./0 (TWINSUK)
T=0.0799/400 (1000Genomes)
T=0.2/8 (GENOME_DK)
HGVS:: NC_000017.11:g.42484864_42484867del, NC_000017.11:g.42484865_42484867del, NC_000017.11:g.42484866_42484867del, NC_000017.11:g.42484867del, NC_000017.11:g.42484867dup, NC_000017.11:g.42484866_42484867dup, NC_000017.11:g.42484864_42484867dup, NC_000017.11:g.42484863_42484867dup, NC_000017.11:g.42484860_42484867dup, NC_000017.10:g.40636882_40636885del, NC_000017.10:g.40636883_40636885del, NC_000017.10:g.40636884_40636885del, NC_000017.10:g.40636885del, NC_000017.10:g.40636885dup, NC_000017.10:g.40636884_40636885dup, NC_000017.10:g.40636882_40636885dup, NC_000017.10:g.40636881_40636885dup, NC_000017.10:g.40636878_40636885dup, NG_047037.1:g.31021_31024del, NG_047037.1:g.31022_31024del, NG_047037.1:g.31023_31024del, NG_047037.1:g.31024del, NG_047037.1:g.31024dup, NG_047037.1:g.31023_31024dup, NG_047037.1:g.31021_31024dup, NG_047037.1:g.31020_31024dup, NG_047037.1:g.31017_31024dup

Select item 14911157747.

rs1491115774 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:42500074 (GRCh38)
17:40652092 (GRCh37)
Canonical SPDI:: NC_000017.11:42500072:ACA:A
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.42500074_42500075del, NC_000017.10:g.40652092_40652093del, NG_047037.1:g.46231_46232del

Select item 14910632058.

rs1491063205 has merged into rs35135162 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:42463009 (GRCh38)
17:40615027 (GRCh37)
Canonical SPDI:: NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42462998:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0./0 (TWINSUK)
-=0.0023/9 (ALSPAC)
HGVS:: NC_000017.11:g.42463009_42463022del, NC_000017.11:g.42463010_42463022del, NC_000017.11:g.42463011_42463022del, NC_000017.11:g.42463012_42463022del, NC_000017.11:g.42463013_42463022del, NC_000017.11:g.42463014_42463022del, NC_000017.11:g.42463015_42463022del, NC_000017.11:g.42463016_42463022del, NC_000017.11:g.42463017_42463022del, NC_000017.11:g.42463018_42463022del, NC_000017.11:g.42463019_42463022del, NC_000017.11:g.42463020_42463022del, NC_000017.11:g.42463021_42463022del, NC_000017.11:g.42463022del, NC_000017.11:g.42463022dup, NC_000017.11:g.42463021_42463022dup, NC_000017.11:g.42463020_42463022dup, NC_000017.11:g.42463019_42463022dup, NC_000017.11:g.42463018_42463022dup, NC_000017.11:g.42463017_42463022dup, NC_000017.11:g.42463016_42463022dup, NC_000017.11:g.42463015_42463022dup, NC_000017.11:g.42463014_42463022dup, NC_000017.11:g.42463013_42463022dup, NC_000017.11:g.42463012_42463022dup, NC_000017.11:g.42462999_42463022dup, NC_000017.11:g.42463022_42463023insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.42463022_42463023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.42463022_42463023insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.40615027_40615040del, NC_000017.10:g.40615028_40615040del, NC_000017.10:g.40615029_40615040del, NC_000017.10:g.40615030_40615040del, NC_000017.10:g.40615031_40615040del, NC_000017.10:g.40615032_40615040del, NC_000017.10:g.40615033_40615040del, NC_000017.10:g.40615034_40615040del, NC_000017.10:g.40615035_40615040del, NC_000017.10:g.40615036_40615040del, NC_000017.10:g.40615037_40615040del, NC_000017.10:g.40615038_40615040del, NC_000017.10:g.40615039_40615040del, NC_000017.10:g.40615040del, NC_000017.10:g.40615040dup, NC_000017.10:g.40615039_40615040dup, NC_000017.10:g.40615038_40615040dup, NC_000017.10:g.40615037_40615040dup, NC_000017.10:g.40615036_40615040dup, NC_000017.10:g.40615035_40615040dup, NC_000017.10:g.40615034_40615040dup, NC_000017.10:g.40615033_40615040dup, NC_000017.10:g.40615032_40615040dup, NC_000017.10:g.40615031_40615040dup, NC_000017.10:g.40615030_40615040dup, NC_000017.10:g.40615017_40615040dup, NC_000017.10:g.40615040_40615041insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.40615040_40615041insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.40615040_40615041insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047037.1:g.9166_9179del, NG_047037.1:g.9167_9179del, NG_047037.1:g.9168_9179del, NG_047037.1:g.9169_9179del, NG_047037.1:g.9170_9179del, NG_047037.1:g.9171_9179del, NG_047037.1:g.9172_9179del, NG_047037.1:g.9173_9179del, NG_047037.1:g.9174_9179del, NG_047037.1:g.9175_9179del, NG_047037.1:g.9176_9179del, NG_047037.1:g.9177_9179del, NG_047037.1:g.9178_9179del, NG_047037.1:g.9179del, NG_047037.1:g.9179dup, NG_047037.1:g.9178_9179dup, NG_047037.1:g.9177_9179dup, NG_047037.1:g.9176_9179dup, NG_047037.1:g.9175_9179dup, NG_047037.1:g.9174_9179dup, NG_047037.1:g.9173_9179dup, NG_047037.1:g.9172_9179dup, NG_047037.1:g.9171_9179dup, NG_047037.1:g.9170_9179dup, NG_047037.1:g.9169_9179dup, NG_047037.1:g.9156_9179dup, NG_047037.1:g.9179_9180insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047037.1:g.9179_9180insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047037.1:g.9179_9180insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910224569.

rs1491022456 has merged into rs34612473 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 17:42515481 (GRCh38)
17:40667499 (GRCh37)
Canonical SPDI:: NC_000017.11:42515468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:42515468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:42515468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:42515468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:42515468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:42515468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:42515468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42515468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.42515481_42515487del, NC_000017.11:g.42515484_42515487del, NC_000017.11:g.42515485_42515487del, NC_000017.11:g.42515486_42515487del, NC_000017.11:g.42515487del, NC_000017.11:g.42515487dup, NC_000017.11:g.42515486_42515487dup, NC_000017.11:g.42515485_42515487dup, NC_000017.10:g.40667499_40667505del, NC_000017.10:g.40667502_40667505del, NC_000017.10:g.40667503_40667505del, NC_000017.10:g.40667504_40667505del, NC_000017.10:g.40667505del, NC_000017.10:g.40667505dup, NC_000017.10:g.40667504_40667505dup, NC_000017.10:g.40667503_40667505dup, NG_047037.1:g.61638_61644del, NG_047037.1:g.61641_61644del, NG_047037.1:g.61642_61644del, NG_047037.1:g.61643_61644del, NG_047037.1:g.61644del, NG_047037.1:g.61644dup, NG_047037.1:g.61643_61644dup, NG_047037.1:g.61642_61644dup

Select item 149094768910.

rs1490947689 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:42483582 (GRCh38)
17:40635600 (GRCh37)
Canonical SPDI:: NC_000017.11:42483581:A:G
Gene:: ATP6V0A1 (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_000017.11:g.42483582A>G, NC_000017.10:g.40635600A>G, NG_047037.1:g.29739A>G

Select item 149093088911.

rs1490930889 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:42483699 (GRCh38)
17:40635717 (GRCh37)
Canonical SPDI:: NC_000017.11:42483698:A:C
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.42483699A>C, NC_000017.10:g.40635717A>C, NG_047037.1:g.29856A>C

Select item 149087673912.

rs1490876739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42467018 (GRCh38)
17:40619036 (GRCh37)
Canonical SPDI:: NC_000017.11:42467017:G:A
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.42467018G>A, NC_000017.10:g.40619036G>A, NG_047037.1:g.13175G>A

Select item 149087220413.

rs1490872204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:42460072 (GRCh38)
17:40612090 (GRCh37)
Canonical SPDI:: NC_000017.11:42460071:C:G
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.42460072C>G, NC_000017.10:g.40612090C>G, NG_047037.1:g.6229C>G

Select item 149080592714.

rs1490805927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42508561 (GRCh38)
17:40660579 (GRCh37)
Canonical SPDI:: NC_000017.11:42508560:G:A
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.42508561G>A, NC_000017.10:g.40660579G>A, NG_047037.1:g.54718G>A

Select item 149080132515.

rs1490801325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42486315 (GRCh38)
17:40638333 (GRCh37)
Canonical SPDI:: NC_000017.11:42486314:G:A
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.42486315G>A, NC_000017.10:g.40638333G>A, NG_047037.1:g.32472G>A

Select item 149078016716.

rs1490780167 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42507280 (GRCh38)
17:40659298 (GRCh37)
Canonical SPDI:: NC_000017.11:42507279:C:T
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.42507280C>T, NC_000017.10:g.40659298C>T, NG_047037.1:g.53437C>T

Select item 149074208917.

rs1490742089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42492477 (GRCh38)
17:40644495 (GRCh37)
Canonical SPDI:: NC_000017.11:42492476:C:T
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42492477C>T, NC_000017.10:g.40644495C>T, NG_047037.1:g.38634C>T

Select item 149065686518.

rs1490656865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42519252 (GRCh38)
17:40671270 (GRCh37)
Canonical SPDI:: NC_000017.11:42519251:C:T
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.42519252C>T, NC_000017.10:g.40671270C>T, NG_047037.1:g.65409C>T

Select item 149059687919.

rs1490596879 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:42492735 (GRCh38)
17:40644753 (GRCh37)
Canonical SPDI:: NC_000017.11:42492734:G:T
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42492735G>T, NC_000017.10:g.40644753G>T, NG_047037.1:g.38892G>T

Select item 149054976220.

rs1490549762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:42522260 (GRCh38)
17:40674278 (GRCh37)
Canonical SPDI:: NC_000017.11:42522259:C:A
Gene:: ATP6V0A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.42522260C>A, NC_000017.10:g.40674278C>A, NG_047037.1:g.68417C>A, NM_005177.5:c.*1140C>A, NM_005177.4:c.*1140C>A, NM_005177.3:c.*1140C>A, NM_001130020.3:c.*1140C>A, NM_001130020.2:c.*1140C>A, NM_001130020.1:c.*1140C>A, NM_001130021.3:c.*1140C>A, NM_001130021.2:c.*1140C>A, NM_001130021.1:c.*1140C>A, NM_001378530.1:c.*1140C>A, NM_001378531.1:c.*1140C>A, NM_001378532.1:c.*1140C>A, NM_001378533.1:c.*1140C>A, NM_001378551.1:c.*1140C>A, NM_001378534.1:c.*1140C>A, NM_001378535.1:c.*1140C>A, NM_001378522.1:c.*1140C>A, NM_001378552.1:c.*1130C>A, NM_001378523.1:c.*1140C>A, NM_001378536.1:c.*1140C>A, NM_001378550.1:c.*1140C>A, NM_001378537.1:c.*1140C>A, NM_001378538.1:c.*1140C>A, NM_001378540.1:c.*1140C>A, NM_001378539.1:c.*1130C>A, NM_001378543.1:c.*1140C>A, NM_001378549.1:c.*1140C>A, NM_001378541.1:c.*1130C>A, NM_001378542.1:c.*1130C>A, NM_001378544.1:c.*1130C>A, NM_001378545.1:c.*1140C>A, NM_001378546.1:c.*1140C>A, NM_001378554.1:c.*1140C>A, NM_001378547.1:c.*1140C>A, NM_001378548.1:c.*1140C>A, NM_001378557.1:c.*1130C>A, NM_001378556.1:c.*1130C>A, NM_001378553.1:c.*1140C>A, NM_001378555.1:c.*1140C>A, XM_047436305.1:c.*1130C>A

<< First< Prev

Page of 737

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 14739

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity