SNP Links for Gene (Select 1829) - SNP

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Select item 14913352641.

rs1491335264 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 18:31538863 (GRCh38)
18:29118827 (GRCh37)
Canonical SPDI:: NC_000018.10:31538863:A:AA
Gene:: DSG2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.31538864dup, NC_000018.9:g.29118827dup, NG_007072.3:g.45623dup, NM_001943.5:c.1765dup, NM_001943.4:c.1765dup, NM_001943.3:c.1765dup, XM_047437315.1:c.1231dup, NP_001934.2:p.Thr589fs, XP_047293271.1:p.Thr411fs

Select item 14911421102.

rs1491142110 has merged into rs36022761 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG,TGTGTG,TGTGTGTG [Show Flanks]
Chromosome:: 18:31547354 (GRCh38)
18:29127317 (GRCh37)
Canonical SPDI:: NC_000018.10:31547342:GTGTGTGTGTGTG:GTGTGTGTGTG,NC_000018.10:31547342:GTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000018.10:31547342:GTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000018.10:31547342:GTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG
Gene:: DSG2 (Varview), DSG2-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTG=0./0 (ALFA)
GT=0.03704/8 (Vietnamese)
GT=0.05358/898 (TOMMO)
GT=0.06823/125 (Korea1K)
GT=0.075/3 (GENOME_DK)
GT=0.10822/108 (GoNL)
GT=0.10923/547 (1000Genomes)
GT=0.11763/527 (Estonian)
GT=0.13/78 (NorthernSweden)
HGVS:: NC_000018.10:g.31547344TG[5], NC_000018.10:g.31547344TG[7], NC_000018.10:g.31547344TG[8], NC_000018.10:g.31547344TG[9], NC_000018.9:g.29127307TG[5], NC_000018.9:g.29127307TG[7], NC_000018.9:g.29127307TG[8], NC_000018.9:g.29127307TG[9], NG_007072.3:g.54103TG[5], NG_007072.3:g.54103TG[7], NG_007072.3:g.54103TG[8], NG_007072.3:g.54103TG[9], NM_001943.5:c.*601TG[5], NM_001943.5:c.*601TG[7], NM_001943.5:c.*601TG[8], NM_001943.5:c.*601TG[9], NM_001943.4:c.*601TG[5], NM_001943.4:c.*601TG[7], NM_001943.4:c.*601TG[8], NM_001943.4:c.*601TG[9], NM_001943.3:c.*601TG[5], NM_001943.3:c.*601TG[7], NM_001943.3:c.*601TG[8], NM_001943.3:c.*601TG[9], XM_047437315.1:c.*601TG[5], XM_047437315.1:c.*601TG[7], XM_047437315.1:c.*601TG[8], XM_047437315.1:c.*601TG[9]

Select item 14911336183.

rs1491133618 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 18:31534508 (GRCh38)
18:29114471 (GRCh37)
Canonical SPDI:: NC_000018.10:31534507:AT:
Gene:: DSG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.001/4 (ALSPAC)
-=0.0022/8 (TWINSUK)
HGVS:: NC_000018.10:g.31534508_31534509del, NC_000018.9:g.29114471_29114472del, NG_007072.3:g.41267_41268del

Select item 14910952244.

rs1491095224 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 18:31547342 (GRCh38)
18:29127305 (GRCh37)
Canonical SPDI:: NC_000018.10:31547341:AG:
Gene:: DSG2 (Varview), DSG2-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.000468/2 (1000Genomes)
-=0.002729/5 (Korea1K)
-=0.018013/302 (TOMMO)
HGVS:: NC_000018.10:g.31547342_31547343del, NC_000018.9:g.29127305_29127306del, NG_007072.3:g.54101_54102del, NM_001943.5:c.*599_*600del, NM_001943.4:c.*599_*600del, NM_001943.3:c.*599_*600del, XM_047437315.1:c.*599_*600del

Select item 14910522305.

rs1491052230 has merged into rs10625787 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:31500047 (GRCh38)
18:29080010 (GRCh37)
Canonical SPDI:: NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31500036:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DSG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.07188/360 (1000Genomes)
-=0.14634/564 (ALSPAC)
-=0.14941/554 (TWINSUK)
HGVS:: NC_000018.10:g.31500047_31500059del, NC_000018.10:g.31500048_31500059del, NC_000018.10:g.31500049_31500059del, NC_000018.10:g.31500050_31500059del, NC_000018.10:g.31500051_31500059del, NC_000018.10:g.31500052_31500059del, NC_000018.10:g.31500053_31500059del, NC_000018.10:g.31500054_31500059del, NC_000018.10:g.31500055_31500059del, NC_000018.10:g.31500056_31500059del, NC_000018.10:g.31500057_31500059del, NC_000018.10:g.31500058_31500059del, NC_000018.10:g.31500059del, NC_000018.10:g.31500059dup, NC_000018.10:g.31500058_31500059dup, NC_000018.10:g.31500057_31500059dup, NC_000018.10:g.31500056_31500059dup, NC_000018.10:g.31500055_31500059dup, NC_000018.10:g.31500054_31500059dup, NC_000018.10:g.31500053_31500059dup, NC_000018.10:g.31500052_31500059dup, NC_000018.10:g.31500051_31500059dup, NC_000018.10:g.31500050_31500059dup, NC_000018.9:g.29080010_29080022del, NC_000018.9:g.29080011_29080022del, NC_000018.9:g.29080012_29080022del, NC_000018.9:g.29080013_29080022del, NC_000018.9:g.29080014_29080022del, NC_000018.9:g.29080015_29080022del, NC_000018.9:g.29080016_29080022del, NC_000018.9:g.29080017_29080022del, NC_000018.9:g.29080018_29080022del, NC_000018.9:g.29080019_29080022del, NC_000018.9:g.29080020_29080022del, NC_000018.9:g.29080021_29080022del, NC_000018.9:g.29080022del, NC_000018.9:g.29080022dup, NC_000018.9:g.29080021_29080022dup, NC_000018.9:g.29080020_29080022dup, NC_000018.9:g.29080019_29080022dup, NC_000018.9:g.29080018_29080022dup, NC_000018.9:g.29080017_29080022dup, NC_000018.9:g.29080016_29080022dup, NC_000018.9:g.29080015_29080022dup, NC_000018.9:g.29080014_29080022dup, NC_000018.9:g.29080013_29080022dup, NG_007072.3:g.6806_6818del, NG_007072.3:g.6807_6818del, NG_007072.3:g.6808_6818del, NG_007072.3:g.6809_6818del, NG_007072.3:g.6810_6818del, NG_007072.3:g.6811_6818del, NG_007072.3:g.6812_6818del, NG_007072.3:g.6813_6818del, NG_007072.3:g.6814_6818del, NG_007072.3:g.6815_6818del, NG_007072.3:g.6816_6818del, NG_007072.3:g.6817_6818del, NG_007072.3:g.6818del, NG_007072.3:g.6818dup, NG_007072.3:g.6817_6818dup, NG_007072.3:g.6816_6818dup, NG_007072.3:g.6815_6818dup, NG_007072.3:g.6814_6818dup, NG_007072.3:g.6813_6818dup, NG_007072.3:g.6812_6818dup, NG_007072.3:g.6811_6818dup, NG_007072.3:g.6810_6818dup, NG_007072.3:g.6809_6818dup

Select item 14910471056.

rs1491047105 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 18:31547688 (GRCh38)
18:29127651 (GRCh37)
Canonical SPDI:: NC_000018.10:31547686:AGA:A
Gene:: DSG2 (Varview), DSG2-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
HGVS:: NC_000018.10:g.31547688_31547689del, NC_000018.9:g.29127651_29127652del, NG_007072.3:g.54447_54448del, NM_001943.5:c.*945_*946del, NM_001943.4:c.*945_*946del, NM_001943.3:c.*945_*946del, XM_047437315.1:c.*945_*946del

Select item 14910110167.

rs1491011016 has merged into rs558578470 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:31505669 (GRCh38)
18:29085632 (GRCh37)
Canonical SPDI:: NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31505656:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DSG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000018.10:g.31505669_31505671del, NC_000018.10:g.31505670_31505671del, NC_000018.10:g.31505671del, NC_000018.10:g.31505671dup, NC_000018.10:g.31505670_31505671dup, NC_000018.10:g.31505669_31505671dup, NC_000018.10:g.31505667_31505671dup, NC_000018.10:g.31505666_31505671dup, NC_000018.10:g.31505665_31505671dup, NC_000018.10:g.31505664_31505671dup, NC_000018.10:g.31505663_31505671dup, NC_000018.10:g.31505662_31505671dup, NC_000018.10:g.31505661_31505671dup, NC_000018.10:g.31505660_31505671dup, NC_000018.10:g.31505658_31505671dup, NC_000018.10:g.31505657_31505671dup, NC_000018.10:g.31505671_31505672insTTTTTTTTTTTTTTTT, NC_000018.10:g.31505671_31505672insTTTTTTTTTTTTTTTTTT, NC_000018.10:g.31505671_31505672insTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.31505671_31505672insTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.31505671_31505672insTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.31505671_31505672insTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.31505671_31505672insTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.31505671_31505672insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.31505671_31505672insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.31505671_31505672insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.31505671_31505672insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.31505671_31505672insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.29085632_29085634del, NC_000018.9:g.29085633_29085634del, NC_000018.9:g.29085634del, NC_000018.9:g.29085634dup, NC_000018.9:g.29085633_29085634dup, NC_000018.9:g.29085632_29085634dup, NC_000018.9:g.29085630_29085634dup, NC_000018.9:g.29085629_29085634dup, NC_000018.9:g.29085628_29085634dup, NC_000018.9:g.29085627_29085634dup, NC_000018.9:g.29085626_29085634dup, NC_000018.9:g.29085625_29085634dup, NC_000018.9:g.29085624_29085634dup, NC_000018.9:g.29085623_29085634dup, NC_000018.9:g.29085621_29085634dup, NC_000018.9:g.29085620_29085634dup, NC_000018.9:g.29085634_29085635insTTTTTTTTTTTTTTTT, NC_000018.9:g.29085634_29085635insTTTTTTTTTTTTTTTTTT, NC_000018.9:g.29085634_29085635insTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.29085634_29085635insTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.29085634_29085635insTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.29085634_29085635insTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.29085634_29085635insTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.29085634_29085635insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.29085634_29085635insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.29085634_29085635insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.29085634_29085635insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.29085634_29085635insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007072.3:g.12428_12430del, NG_007072.3:g.12429_12430del, NG_007072.3:g.12430del, NG_007072.3:g.12430dup, NG_007072.3:g.12429_12430dup, NG_007072.3:g.12428_12430dup, NG_007072.3:g.12426_12430dup, NG_007072.3:g.12425_12430dup, NG_007072.3:g.12424_12430dup, NG_007072.3:g.12423_12430dup, NG_007072.3:g.12422_12430dup, NG_007072.3:g.12421_12430dup, NG_007072.3:g.12420_12430dup, NG_007072.3:g.12419_12430dup, NG_007072.3:g.12417_12430dup, NG_007072.3:g.12416_12430dup, NG_007072.3:g.12430_12431insTTTTTTTTTTTTTTTT, NG_007072.3:g.12430_12431insTTTTTTTTTTTTTTTTTT, NG_007072.3:g.12430_12431insTTTTTTTTTTTTTTTTTTT, NG_007072.3:g.12430_12431insTTTTTTTTTTTTTTTTTTTT, NG_007072.3:g.12430_12431insTTTTTTTTTTTTTTTTTTTTT, NG_007072.3:g.12430_12431insTTTTTTTTTTTTTTTTTTTTTT, NG_007072.3:g.12430_12431insTTTTTTTTTTTTTTTTTTTTTTT, NG_007072.3:g.12430_12431insTTTTTTTTTTTTTTTTTTTTTTTT, NG_007072.3:g.12430_12431insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007072.3:g.12430_12431insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007072.3:g.12430_12431insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007072.3:g.12430_12431insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14909991948.

rs1490999194 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 18:31533294 (GRCh38)
18:29113257 (GRCh37)
Canonical SPDI:: NC_000018.10:31533293:CC:C
Gene:: DSG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.31533295del, NC_000018.9:g.29113258del, NG_007072.3:g.40054del

Select item 14908916649.

rs1490891664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:31497083 (GRCh38)
18:29077046 (GRCh37)
Canonical SPDI:: NC_000018.10:31497082:C:T
Gene:: DSG2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.31497083C>T, NC_000018.9:g.29077046C>T, NG_007072.3:g.3842C>T

Select item 149085548010.

rs1490855480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:31499189 (GRCh38)
18:29079152 (GRCh37)
Canonical SPDI:: NC_000018.10:31499188:C:G,NC_000018.10:31499188:C:T
Gene:: DSG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000018.10:g.31499189C>G, NC_000018.10:g.31499189C>T, NC_000018.9:g.29079152C>G, NC_000018.9:g.29079152C>T, NG_007072.3:g.5948C>G, NG_007072.3:g.5948C>T

Select item 149082792511.

rs1490827925 has merged into rs199925165 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATTTTATTTTATTTTATTTTATTTTATTT>-,TATTT,TATTTTATTT,TATTTTATTTTATTT,TATTTTATTTTATTTTATTT,TATTTTATTTTATTTTATTTTATTT,TATTTTATTTTATTTTATTTTATTTTATTTTATTT,TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT,TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT [Show Flanks]
Chromosome:: 18:31508376 (GRCh38)
18:29088339 (GRCh37)
Canonical SPDI:: NC_000018.10:31508353:TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT:TTTATTTTATTTTATTTTATTT,NC_000018.10:31508353:TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT:TTTATTTTATTTTATTTTATTTTATTT,NC_000018.10:31508353:TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT:TTTATTTTATTTTATTTTATTTTATTTTATTT,NC_000018.10:31508353:TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT:TTTATTTTATTTTATTTTATTTTATTTTATTTTATTT,NC_000018.10:31508353:TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT:TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT,NC_000018.10:31508353:TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT:TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT,NC_000018.10:31508353:TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT:TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT,NC_000018.10:31508353:TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT:TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT,NC_000018.10:31508353:TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT:TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT
Gene:: DSG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTATTTTATTTTATTTTATTTTATTTTATTT=0./0 (ALFA)
-=0.1352/521 (ALSPAC)
-=0.2107/1055 (1000Genomes)
HGVS:: NC_000018.10:g.31508356TATTT[4], NC_000018.10:g.31508356TATTT[5], NC_000018.10:g.31508356TATTT[6], NC_000018.10:g.31508356TATTT[7], NC_000018.10:g.31508356TATTT[8], NC_000018.10:g.31508356TATTT[9], NC_000018.10:g.31508356TATTT[11], NC_000018.10:g.31508356TATTT[12], NC_000018.10:g.31508356TATTT[13], NC_000018.9:g.29088319TATTT[4], NC_000018.9:g.29088319TATTT[5], NC_000018.9:g.29088319TATTT[6], NC_000018.9:g.29088319TATTT[7], NC_000018.9:g.29088319TATTT[8], NC_000018.9:g.29088319TATTT[9], NC_000018.9:g.29088319TATTT[11], NC_000018.9:g.29088319TATTT[12], NC_000018.9:g.29088319TATTT[13], NG_007072.3:g.15115TATTT[4], NG_007072.3:g.15115TATTT[5], NG_007072.3:g.15115TATTT[6], NG_007072.3:g.15115TATTT[7], NG_007072.3:g.15115TATTT[8], NG_007072.3:g.15115TATTT[9], NG_007072.3:g.15115TATTT[11], NG_007072.3:g.15115TATTT[12], NG_007072.3:g.15115TATTT[13]

Select item 149081988612.

rs1490819886 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:31542869 (GRCh38)
18:29122832 (GRCh37)
Canonical SPDI:: NC_000018.10:31542868:T:C
Gene:: DSG2 (Varview), DSG2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000018.10:g.31542869T>C, NC_000018.9:g.29122832T>C, NG_007072.3:g.49628T>C

Select item 149076494913.

rs1490764949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:31541744 (GRCh38)
18:29121707 (GRCh37)
Canonical SPDI:: NC_000018.10:31541743:C:A
Gene:: DSG2 (Varview), DSG2-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000018.10:g.31541744C>A, NC_000018.9:g.29121707C>A, NG_007072.3:g.48503C>A

Select item 149074226414.

rs1490742264 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:31517688 (GRCh38)
18:29097651 (GRCh37)
Canonical SPDI:: NC_000018.10:31517687:A:G
Gene:: DSG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.31517688A>G, NC_000018.9:g.29097651A>G, NG_007072.3:g.24447A>G

Select item 149073455715.

rs1490734557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:31525402 (GRCh38)
18:29105365 (GRCh37)
Canonical SPDI:: NC_000018.10:31525401:C:A
Gene:: DSG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.31525402C>A, NC_000018.9:g.29105365C>A, NG_007072.3:g.32161C>A

Select item 149051051916.

rs1490510519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:31534387 (GRCh38)
18:29114350 (GRCh37)
Canonical SPDI:: NC_000018.10:31534386:C:G
Gene:: DSG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.00006/1 (TOMMO)
HGVS:: NC_000018.10:g.31534387C>G, NC_000018.9:g.29114350C>G, NG_007072.3:g.41146C>G

Select item 149036078917.

rs1490360789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:31534402 (GRCh38)
18:29114365 (GRCh37)
Canonical SPDI:: NC_000018.10:31534401:C:T
Gene:: DSG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000018.10:g.31534402C>T, NC_000018.9:g.29114365C>T, NG_007072.3:g.41161C>T

Select item 149027826318.

rs1490278263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:31541156 (GRCh38)
18:29121119 (GRCh37)
Canonical SPDI:: NC_000018.10:31541155:G:T
Gene:: DSG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.31541156G>T, NC_000018.9:g.29121119G>T, NG_007072.3:g.47915G>T

Select item 149005401119.

rs1490054011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:31549274 (GRCh38)
18:29129237 (GRCh37)
Canonical SPDI:: NC_000018.10:31549273:G:A
Gene:: DSG2 (Varview), DSG2-AS1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.31549274G>A, NC_000018.9:g.29129237G>A, NG_007072.3:g.56033G>A

Select item 149003871720.

rs1490038717 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATTT>- [Show Flanks]
Chromosome:: 18:31548196 (GRCh38)
18:29128159 (GRCh37)
Canonical SPDI:: NC_000018.10:31548193:TTAATTT:TT
Gene:: DSG2 (Varview), DSG2-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.31548196_31548200del, NC_000018.9:g.29128159_29128163del, NG_007072.3:g.54955_54959del, NM_001943.5:c.*1453_*1457del, NM_001943.4:c.*1453_*1457del, NM_001943.3:c.*1453_*1457del, XM_047437315.1:c.*1453_*1457del

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