SNP Links for Gene (Select 8913) - SNP

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Select item 14913777831.

rs1491377783 has merged into rs11291581 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 17:50611264 (GRCh38)
17:48688625 (GRCh37)
Canonical SPDI:: NC_000017.11:50611252:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:50611252:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:50611252:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:50611252:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:50611252:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:50611252:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:50611252:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:50611252:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:50611252:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: CACNA1G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0117/45 (ALSPAC)
HGVS:: NC_000017.11:g.50611264_50611271del, NC_000017.11:g.50611267_50611271del, NC_000017.11:g.50611268_50611271del, NC_000017.11:g.50611269_50611271del, NC_000017.11:g.50611270_50611271del, NC_000017.11:g.50611271del, NC_000017.11:g.50611271dup, NC_000017.11:g.50611270_50611271dup, NC_000017.11:g.50611269_50611271dup, NC_000017.10:g.48688625_48688632del, NC_000017.10:g.48688628_48688632del, NC_000017.10:g.48688629_48688632del, NC_000017.10:g.48688630_48688632del, NC_000017.10:g.48688631_48688632del, NC_000017.10:g.48688632del, NC_000017.10:g.48688632dup, NC_000017.10:g.48688631_48688632dup, NC_000017.10:g.48688630_48688632dup, NG_032024.1:g.55197_55204del, NG_032024.1:g.55200_55204del, NG_032024.1:g.55201_55204del, NG_032024.1:g.55202_55204del, NG_032024.1:g.55203_55204del, NG_032024.1:g.55204del, NG_032024.1:g.55204dup, NG_032024.1:g.55203_55204dup, NG_032024.1:g.55202_55204dup

Select item 14913561212.

rs1491356121 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 17:50564128 (GRCh38)
17:48641490 (GRCh37)
Canonical SPDI:: NC_000017.11:50564128:T:TAT
Gene:: CACNA1G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
TA=0.00013/6 (GnomAD)
HGVS:: NC_000017.11:g.50564129_50564130insAT, NC_000017.10:g.48641490_48641491insAT, NG_032024.1:g.8062_8063insAT

Select item 14913518763.

rs1491351876 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:50584618 (GRCh38)
17:48661979 (GRCh37)
Canonical SPDI:: NC_000017.11:50584617:AG:
Gene:: CACNA1G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00007/3 (GnomAD)
-=0.00016/1 (1000Genomes)
HGVS:: NC_000017.11:g.50584618_50584619del, NC_000017.10:g.48661979_48661980del, NG_032024.1:g.28551_28552del

Select item 14913162274.

rs1491316227 has merged into rs370134471 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG [Show Flanks]
Chromosome:: 17:50561834 (GRCh38)
17:48639195 (GRCh37)
Canonical SPDI:: NC_000017.11:50561825:GGGGGGGGGG:GGGGGGGG,NC_000017.11:50561825:GGGGGGGGGG:GGGGGGGGG,NC_000017.11:50561825:GGGGGGGGGG:GGGGGGGGGGG,NC_000017.11:50561825:GGGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:50561825:GGGGGGGGGG:GGGGGGGGGGGGG
Gene:: CACNA1G (Varview), CACNA1G-AS1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGG=0./0 (ALFA)
-=0.05333/819 (GnomAD)
HGVS:: NC_000017.11:g.50561834_50561835del, NC_000017.11:g.50561835del, NC_000017.11:g.50561835dup, NC_000017.11:g.50561834_50561835dup, NC_000017.11:g.50561833_50561835dup, NC_000017.10:g.48639195_48639196del, NC_000017.10:g.48639196del, NC_000017.10:g.48639196dup, NC_000017.10:g.48639195_48639196dup, NC_000017.10:g.48639194_48639196dup, NG_032024.1:g.5767_5768del, NG_032024.1:g.5768del, NG_032024.1:g.5768dup, NG_032024.1:g.5767_5768dup, NG_032024.1:g.5766_5768dup

Select item 14913043325.

rs1491304332 has merged into rs1005241118 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGGGGGG [Show Flanks]
Chromosome:: 17:50584623 (GRCh38)
17:48661984 (GRCh37)
Canonical SPDI:: NC_000017.11:50584618:GGGGGG:GGGG,NC_000017.11:50584618:GGGGGG:GGGGG,NC_000017.11:50584618:GGGGGG:GGGGGGG,NC_000017.11:50584618:GGGGGG:GGGGGGGGGGGG
Gene:: CACNA1G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
HGVS:: NC_000017.11:g.50584623_50584624del, NC_000017.11:g.50584624del, NC_000017.11:g.50584624dup, NC_000017.11:g.50584619_50584624dup, NC_000017.10:g.48661984_48661985del, NC_000017.10:g.48661985del, NC_000017.10:g.48661985dup, NC_000017.10:g.48661980_48661985dup, NG_032024.1:g.28556_28557del, NG_032024.1:g.28557del, NG_032024.1:g.28557dup, NG_032024.1:g.28552_28557dup

Select item 14912885416.

rs1491288541 has merged into rs3062818 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC [Show Flanks]
Chromosome:: 17:50565145 (GRCh38)
17:48642506 (GRCh37)
Canonical SPDI:: NC_000017.11:50565141:CGCGC:CGC,NC_000017.11:50565141:CGCGC:CGCGCGC
Gene:: CACNA1G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0.05942/776 (ALFA)
-=0.03606/604 (TOMMO)
-=0.04673/10 (Vietnamese)
-=0.125/5 (GENOME_DK)
-=0.17314/642 (TWINSUK)
-=0.18319/706 (ALSPAC)
-=0.19167/115 (NorthernSweden)
HGVS:: NC_000017.11:g.50565143GC[1], NC_000017.11:g.50565143GC[3], NC_000017.10:g.48642504GC[1], NC_000017.10:g.48642504GC[3], NG_032024.1:g.9076GC[1], NG_032024.1:g.9076GC[3]

Select item 14912138977.

rs1491213897 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:50611252 (GRCh38)
17:48688613 (GRCh37)
Canonical SPDI:: NC_000017.11:50611251:TA:
Gene:: CACNA1G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00008/5 (GnomAD)
HGVS:: NC_000017.11:g.50611252_50611253del, NC_000017.10:g.48688613_48688614del, NG_032024.1:g.55185_55186del

Select item 14911967158.

rs1491196715 has merged into rs3986415 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:50624966 (GRCh38)
17:48702327 (GRCh37)
Canonical SPDI:: NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:50624955:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CACNA1G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.50624966_50624975del, NC_000017.11:g.50624967_50624975del, NC_000017.11:g.50624968_50624975del, NC_000017.11:g.50624970_50624975del, NC_000017.11:g.50624971_50624975del, NC_000017.11:g.50624972_50624975del, NC_000017.11:g.50624973_50624975del, NC_000017.11:g.50624974_50624975del, NC_000017.11:g.50624975del, NC_000017.11:g.50624975dup, NC_000017.11:g.50624974_50624975dup, NC_000017.11:g.50624973_50624975dup, NC_000017.11:g.50624972_50624975dup, NC_000017.11:g.50624971_50624975dup, NC_000017.11:g.50624970_50624975dup, NC_000017.11:g.50624969_50624975dup, NC_000017.11:g.50624967_50624975dup, NC_000017.11:g.50624966_50624975dup, NC_000017.11:g.50624963_50624975dup, NC_000017.11:g.50624959_50624975dup, NC_000017.11:g.50624957_50624975dup, NC_000017.11:g.50624975_50624976insTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.50624975_50624976insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.50624975_50624976insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.48702327_48702336del, NC_000017.10:g.48702328_48702336del, NC_000017.10:g.48702329_48702336del, NC_000017.10:g.48702331_48702336del, NC_000017.10:g.48702332_48702336del, NC_000017.10:g.48702333_48702336del, NC_000017.10:g.48702334_48702336del, NC_000017.10:g.48702335_48702336del, NC_000017.10:g.48702336del, NC_000017.10:g.48702336dup, NC_000017.10:g.48702335_48702336dup, NC_000017.10:g.48702334_48702336dup, NC_000017.10:g.48702333_48702336dup, NC_000017.10:g.48702332_48702336dup, NC_000017.10:g.48702331_48702336dup, NC_000017.10:g.48702330_48702336dup, NC_000017.10:g.48702328_48702336dup, NC_000017.10:g.48702327_48702336dup, NC_000017.10:g.48702324_48702336dup, NC_000017.10:g.48702320_48702336dup, NC_000017.10:g.48702318_48702336dup, NC_000017.10:g.48702336_48702337insTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.48702336_48702337insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.48702336_48702337insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032024.1:g.68899_68908del, NG_032024.1:g.68900_68908del, NG_032024.1:g.68901_68908del, NG_032024.1:g.68903_68908del, NG_032024.1:g.68904_68908del, NG_032024.1:g.68905_68908del, NG_032024.1:g.68906_68908del, NG_032024.1:g.68907_68908del, NG_032024.1:g.68908del, NG_032024.1:g.68908dup, NG_032024.1:g.68907_68908dup, NG_032024.1:g.68906_68908dup, NG_032024.1:g.68905_68908dup, NG_032024.1:g.68904_68908dup, NG_032024.1:g.68903_68908dup, NG_032024.1:g.68902_68908dup, NG_032024.1:g.68900_68908dup, NG_032024.1:g.68899_68908dup, NG_032024.1:g.68896_68908dup, NG_032024.1:g.68892_68908dup, NG_032024.1:g.68890_68908dup, NG_032024.1:g.68908_68909insTTTTTTTTTTTTTTTTTTTTTTT, NG_032024.1:g.68908_68909insTTTTTTTTTTTTTTTTTTTTTTTT, NG_032024.1:g.68908_68909insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14911492309.

rs1491149230 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 17:50565387 (GRCh38)
17:48642748 (GRCh37)
Canonical SPDI:: NC_000017.11:50565385:GCG:G
Gene:: CACNA1G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000088/12 (GnomAD)
HGVS:: NC_000017.11:g.50565387_50565388del, NC_000017.10:g.48642748_48642749del, NG_032024.1:g.9320_9321del

Select item 149114668810.

rs1491146688 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 17:50568986 (GRCh38)
17:48646348 (GRCh37)
Canonical SPDI:: NC_000017.11:50568986:T:TTT
Gene:: CACNA1G (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.50568987_50568988insTT, NC_000017.10:g.48646348_48646349insTT, NG_032024.1:g.12920_12921insTT

Select item 149108711111.

rs1491087111 has merged into rs35679930 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCT>-,CTCT,CTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 17:50589906 (GRCh38)
17:48667267 (GRCh37)
Canonical SPDI:: NC_000017.11:50589894:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCT,NC_000017.11:50589894:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000017.11:50589894:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000017.11:50589894:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000017.11:50589894:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:50589894:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:50589894:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:50589894:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:50589894:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:50589894:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:50589894:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:50589894:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:50589894:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: CACNA1G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCT=0./0 (ALFA)
TC=0.00121/20 (TOMMO)
TC=0.00164/3 (Korea1K)
TC=0.03333/20 (NorthernSweden)
HGVS:: NC_000017.11:g.50589896CT[5], NC_000017.11:g.50589896CT[7], NC_000017.11:g.50589896CT[8], NC_000017.11:g.50589896CT[10], NC_000017.11:g.50589896CT[11], NC_000017.11:g.50589896CT[12], NC_000017.11:g.50589896CT[13], NC_000017.11:g.50589896CT[14], NC_000017.11:g.50589896CT[15], NC_000017.11:g.50589896CT[17], NC_000017.11:g.50589896CT[18], NC_000017.11:g.50589896CT[19], NC_000017.11:g.50589896CT[20], NC_000017.10:g.48667257CT[5], NC_000017.10:g.48667257CT[7], NC_000017.10:g.48667257CT[8], NC_000017.10:g.48667257CT[10], NC_000017.10:g.48667257CT[11], NC_000017.10:g.48667257CT[12], NC_000017.10:g.48667257CT[13], NC_000017.10:g.48667257CT[14], NC_000017.10:g.48667257CT[15], NC_000017.10:g.48667257CT[17], NC_000017.10:g.48667257CT[18], NC_000017.10:g.48667257CT[19], NC_000017.10:g.48667257CT[20], NG_032024.1:g.33829CT[5], NG_032024.1:g.33829CT[7], NG_032024.1:g.33829CT[8], NG_032024.1:g.33829CT[10], NG_032024.1:g.33829CT[11], NG_032024.1:g.33829CT[12], NG_032024.1:g.33829CT[13], NG_032024.1:g.33829CT[14], NG_032024.1:g.33829CT[15], NG_032024.1:g.33829CT[17], NG_032024.1:g.33829CT[18], NG_032024.1:g.33829CT[19], NG_032024.1:g.33829CT[20]

Select item 149108311212.

rs1491083112 has merged into rs754507011 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA [Show Flanks]
Chromosome:: 17:50565156 (GRCh38)
17:48642517 (GRCh37)
Canonical SPDI:: NC_000017.11:50565145:CACACACACACACA:CACACACACA,NC_000017.11:50565145:CACACACACACACA:CACACACACACA,NC_000017.11:50565145:CACACACACACACA:CACACACACACACACA
Gene:: CACNA1G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACA=0./0 (ALFA)
CA=0.00042/7 (TOMMO)
CA=0.00109/2 (Korea1K)
HGVS:: NC_000017.11:g.50565146CA[5], NC_000017.11:g.50565146CA[6], NC_000017.11:g.50565146CA[8], NC_000017.10:g.48642507CA[5], NC_000017.10:g.48642507CA[6], NC_000017.10:g.48642507CA[8], NG_032024.1:g.9079CA[5], NG_032024.1:g.9079CA[6], NG_032024.1:g.9079CA[8]

Select item 149100077613.

rs1491000776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:50619491 (GRCh38)
17:48696852 (GRCh37)
Canonical SPDI:: NC_000017.11:50619490:C:A
Gene:: CACNA1G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.50619491C>A, NC_000017.10:g.48696852C>A, NG_032024.1:g.63424C>A

Select item 149093160314.

rs1490931603 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:50604015 (GRCh38)
17:48681376 (GRCh37)
Canonical SPDI:: NC_000017.11:50604014:A:G
Gene:: CACNA1G (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)
G=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.50604015A>G, NC_000017.10:g.48681376A>G, NG_032024.1:g.47948A>G

Select item 149090943615.

rs1490909436 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:50567785 (GRCh38)
17:48645146 (GRCh37)
Canonical SPDI:: NC_000017.11:50567784:T:G
Gene:: CACNA1G (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.50567785T>G, NC_000017.10:g.48645146T>G, NG_032024.1:g.11718T>G

Select item 149088765716.

rs1490887657 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGACGGGG>- [Show Flanks]
Chromosome:: 17:50581096 (GRCh38)
17:48658457 (GRCh37)
Canonical SPDI:: NC_000017.11:50581093:GGAGACGGGG:GG
Gene:: CACNA1G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.50581096_50581103del, NC_000017.10:g.48658457_48658464del, NG_032024.1:g.25029_25036del

Select item 149085866017.

rs1490858660 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:50588994 (GRCh38)
17:48666355 (GRCh37)
Canonical SPDI:: NC_000017.11:50588993:A:G
Gene:: CACNA1G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000038/10 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.50588994A>G, NC_000017.10:g.48666355A>G, NG_032024.1:g.32927A>G

Select item 149078315818.

rs1490783158 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGC>- [Show Flanks]
Chromosome:: 17:50595757 (GRCh38)
17:48673118 (GRCh37)
Canonical SPDI:: NC_000017.11:50595753:TGCTGC:TGC
Gene:: CACNA1G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGCTGC=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.50595754TGC[1], NC_000017.10:g.48673115TGC[1], NG_032024.1:g.39687TGC[1]

Select item 149073195619.

rs1490731956 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50625680 (GRCh38)
17:48703041 (GRCh37)
Canonical SPDI:: NC_000017.11:50625679:G:A
Gene:: CACNA1G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.50625680G>A, NC_000017.10:g.48703041G>A, NG_032024.1:g.69613G>A

Select item 149069336920.

rs1490693369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50610723 (GRCh38)
17:48688084 (GRCh37)
Canonical SPDI:: NC_000017.11:50610722:C:T
Gene:: CACNA1G (Varview)
Functional Consequence:: 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.50610723C>T, NC_000017.10:g.48688084C>T, NG_032024.1:g.54656C>T

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