SNP Links for Protein (Select 5454158) - SNP

Select item 14811026001.

rs1481102600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31781538 (GRCh38)
6:31749315 (GRCh37)
Canonical SPDI:: NC_000006.12:31781537:C:T
Gene:: VARS1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31781538C>T, NC_000006.11:g.31749315C>T, NG_028229.1:g.19398G>A, NM_006295.3:c.2487G>A, NM_006295.2:c.2487G>A, NT_113891.3:g.3258780C>T, NT_113891.2:g.3258886C>T, NT_167245.2:g.3029312C>T, NT_167245.1:g.3034897C>T, NT_167247.2:g.3123427C>T, NT_167247.1:g.3129012C>T, NT_167244.2:g.3114149C>T, NT_167244.1:g.3064065C>T, NT_167249.2:g.3080829C>T, NT_167249.1:g.3080127C>T, XM_005249362.3:c.2490G>A, XM_005249362.2:c.2490G>A, XM_005249362.1:c.2490G>A, XM_047419296.1:c.2490G>A, XM_047419297.1:c.2487G>A, NP_006286.1:p.Trp829Ter, XP_005249419.1:p.Trp830Ter, XP_047275252.1:p.Trp830Ter, XP_047275253.1:p.Trp829Ter

Select item 14806295032.

rs1480629503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31782360 (GRCh38)
6:31750137 (GRCh37)
Canonical SPDI:: NC_000006.12:31782359:G:C
Gene:: VARS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31782360G>C, NC_000006.11:g.31750137G>C, NG_028229.1:g.18576C>G, NM_006295.3:c.2075C>G, NM_006295.2:c.2075C>G, NT_113891.3:g.3259602G>C, NT_113891.2:g.3259708G>C, NT_167245.2:g.3030134G>C, NT_167245.1:g.3035719G>C, NT_167247.2:g.3124249G>C, NT_167247.1:g.3129834G>C, NT_167244.2:g.3114971G>C, NT_167244.1:g.3064887G>C, NT_167249.2:g.3081651G>C, NT_167249.1:g.3080949G>C, XM_005249362.3:c.2078C>G, XM_005249362.2:c.2078C>G, XM_005249362.1:c.2078C>G, XM_047419297.1:c.2075C>G, XM_047419296.1:c.2078C>G, XM_047419298.1:c.2078C>G, NP_006286.1:p.Ala692Gly, XP_005249419.1:p.Ala693Gly, XP_047275253.1:p.Ala692Gly, XP_047275252.1:p.Ala693Gly, XP_047275254.1:p.Ala693Gly

Select item 14801225693.

rs1480122569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31781903 (GRCh38)
6:31749680 (GRCh37)
Canonical SPDI:: NC_000006.12:31781902:C:T
Gene:: VARS1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31781903C>T, NC_000006.11:g.31749680C>T, NG_028229.1:g.19033G>A, NM_006295.3:c.2291G>A, NM_006295.2:c.2291G>A, NT_113891.3:g.3259145C>T, NT_113891.2:g.3259251C>T, NT_167245.2:g.3029677C>T, NT_167245.1:g.3035262C>T, NT_167247.2:g.3123792C>T, NT_167247.1:g.3129377C>T, NT_167244.2:g.3114514C>T, NT_167244.1:g.3064430C>T, NT_167249.2:g.3081194C>T, NT_167249.1:g.3080492C>T, XM_005249362.3:c.2294G>A, XM_005249362.2:c.2294G>A, XM_005249362.1:c.2294G>A, XM_047419297.1:c.2291G>A, XM_047419296.1:c.2294G>A, XM_047419298.1:c.*42G>A, NP_006286.1:p.Arg764Gln, XP_005249419.1:p.Arg765Gln, XP_047275253.1:p.Arg764Gln, XP_047275252.1:p.Arg765Gln

Select item 14768364534.

rs1476836453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31784235 (GRCh38)
6:31752012 (GRCh37)
Canonical SPDI:: NC_000006.12:31784234:G:A
Gene:: VARS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.31784235G>A, NC_000006.11:g.31752012G>A, NG_028229.1:g.16701C>T, NM_006295.3:c.1650C>T, NM_006295.2:c.1650C>T, NT_113891.3:g.3261478G>A, NT_113891.2:g.3261584G>A, NT_167245.2:g.3032009G>A, NT_167245.1:g.3037594G>A, NT_167247.2:g.3126125G>A, NT_167247.1:g.3131710G>A, NT_167244.2:g.3116847G>A, NT_167244.1:g.3066763G>A, NT_167249.2:g.3083527G>A, NT_167249.1:g.3082825G>A, XM_005249362.3:c.1653C>T, XM_005249362.2:c.1653C>T, XM_005249362.1:c.1653C>T, XM_047419296.1:c.1653C>T, XM_047419297.1:c.1650C>T, XM_047419298.1:c.1653C>T

Select item 14754587325.

rs1475458732 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31778986 (GRCh38)
6:31746763 (GRCh37)
Canonical SPDI:: NC_000006.12:31778985:T:C
Gene:: VARS1 (Varview), VWA7 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31778986T>C, NC_000006.11:g.31746763T>C, NG_028229.1:g.21950A>G, NM_006295.3:c.3707A>G, NM_006295.2:c.3707A>G, NT_113891.3:g.3256228T>C, NT_113891.2:g.3256334T>C, NT_167245.2:g.3026760T>C, NT_167245.1:g.3032345T>C, NT_167247.2:g.3120875T>C, NT_167247.1:g.3126460T>C, NT_167244.2:g.3111597T>C, NT_167244.1:g.3061513T>C, NT_167249.2:g.3078277T>C, NT_167249.1:g.3077575T>C, XM_005249362.3:c.3710A>G, XM_005249362.2:c.3710A>G, XM_005249362.1:c.3710A>G, XM_047419297.1:c.3707A>G, XM_047419296.1:c.3710A>G, NP_006286.1:p.Gln1236Arg, XP_005249419.1:p.Gln1237Arg, XP_047275253.1:p.Gln1236Arg, XP_047275252.1:p.Gln1237Arg

Select item 14754291566.

rs1475429156 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:31780002 (GRCh38)
6:31747779 (GRCh37)
Canonical SPDI:: NC_000006.12:31780001:T:G
Gene:: VARS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_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_000006.12:g.31780002T>G, NC_000006.11:g.31747779T>G, NG_028229.1:g.20934A>C, NM_006295.3:c.3077A>C, NM_006295.2:c.3077A>C, NT_113891.3:g.3257244T>G, NT_113891.2:g.3257350T>G, NT_167245.2:g.3027776T>G, NT_167245.1:g.3033361T>G, NT_167247.2:g.3121891T>G, NT_167247.1:g.3127476T>G, NT_167244.2:g.3112613T>G, NT_167244.1:g.3062529T>G, NT_167249.2:g.3079293T>G, NT_167249.1:g.3078591T>G, XM_005249362.3:c.3080A>C, XM_005249362.2:c.3080A>C, XM_005249362.1:c.3080A>C, XM_047419296.1:c.3080A>C, XM_047419297.1:c.3077A>C, NP_006286.1:p.Tyr1026Ser, XP_005249419.1:p.Tyr1027Ser, XP_047275252.1:p.Tyr1027Ser, XP_047275253.1:p.Tyr1026Ser

Select item 14751893137.

rs1475189313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:31791710 (GRCh38)
6:31759487 (GRCh37)
Canonical SPDI:: NC_000006.12:31791709:G:A,NC_000006.12:31791709:G:T
Gene:: VARS1 (Varview)
Functional Consequence:: synonymous_variant,stop_gained,coding_sequence_variant
HGVS:: NC_000006.12:g.31791710G>A, NC_000006.12:g.31791710G>T, NC_000006.11:g.31759487G>A, NC_000006.11:g.31759487G>T, NG_028229.1:g.9226C>T, NG_028229.1:g.9226C>A, NM_006295.3:c.1000C>T, NM_006295.3:c.1000C>A, NM_006295.2:c.1000C>T, NM_006295.2:c.1000C>A, NT_113891.3:g.3268950G>A, NT_113891.3:g.3268950G>T, NT_113891.2:g.3269056G>A, NT_113891.2:g.3269056G>T, NT_167245.2:g.3039484G>A, NT_167245.2:g.3039484G>T, NT_167245.1:g.3045069G>A, NT_167245.1:g.3045069G>T, NT_167247.2:g.3133599G>A, NT_167247.2:g.3133599G>T, NT_167247.1:g.3139184G>A, NT_167247.1:g.3139184G>T, NT_167244.2:g.3124321G>A, NT_167244.2:g.3124321G>T, NT_167244.1:g.3074237G>A, NT_167244.1:g.3074237G>T, NT_167249.2:g.3091001G>A, NT_167249.2:g.3091001G>T, NT_167249.1:g.3090299G>A, NT_167249.1:g.3090299G>T, NT_167248.2:g.3047537G>A, NT_167248.2:g.3047537G>T, NT_167248.1:g.3053133G>A, NT_167248.1:g.3053133G>T, XM_005249362.3:c.1003C>T, XM_005249362.3:c.1003C>A, XM_005249362.2:c.1003C>T, XM_005249362.2:c.1003C>A, XM_005249362.1:c.1003C>T, XM_005249362.1:c.1003C>A, XM_047419296.1:c.1003C>T, XM_047419296.1:c.1003C>A, XM_047419298.1:c.1003C>T, XM_047419298.1:c.1003C>A, XM_047419297.1:c.1000C>T, XM_047419297.1:c.1000C>A, NP_006286.1:p.Arg334Ter, XP_005249419.1:p.Arg335Ter, XP_047275252.1:p.Arg335Ter, XP_047275254.1:p.Arg335Ter, XP_047275253.1:p.Arg334Ter

Select item 14742696078.

rs1474269607 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31785587 (GRCh38)
6:31753364 (GRCh37)
Canonical SPDI:: NC_000006.12:31785586:A:G
Gene:: VARS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.000036/5 (GnomAD)
G=0.000094/25 (TOPMED)
HGVS:: NC_000006.12:g.31785587A>G, NC_000006.11:g.31753364A>G, NG_028229.1:g.15349T>C, NM_006295.3:c.1247T>C, NM_006295.2:c.1247T>C, NT_113891.3:g.3262830A>G, NT_113891.2:g.3262936A>G, NT_167245.2:g.3033361A>G, NT_167245.1:g.3038946A>G, NT_167247.2:g.3127477A>G, NT_167247.1:g.3133062A>G, NT_167244.2:g.3118199A>G, NT_167244.1:g.3068115A>G, NT_167249.2:g.3084879A>G, NT_167249.1:g.3084177A>G, XM_005249362.3:c.1250T>C, XM_005249362.2:c.1250T>C, XM_005249362.1:c.1250T>C, XM_047419297.1:c.1247T>C, XM_047419296.1:c.1250T>C, XM_047419298.1:c.1250T>C, NP_006286.1:p.Val416Ala, XP_005249419.1:p.Val417Ala, XP_047275253.1:p.Val416Ala, XP_047275252.1:p.Val417Ala, XP_047275254.1:p.Val417Ala

Select item 14728687529.

rs1472868752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:31778998 (GRCh38)
6:31746775 (GRCh37)
Canonical SPDI:: NC_000006.12:31778997:G:A,NC_000006.12:31778997:G:T
Gene:: VARS1 (Varview), VWA7 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.31778998G>A, NC_000006.12:g.31778998G>T, NC_000006.11:g.31746775G>A, NC_000006.11:g.31746775G>T, NG_028229.1:g.21938C>T, NG_028229.1:g.21938C>A, NM_006295.3:c.3695C>T, NM_006295.3:c.3695C>A, NM_006295.2:c.3695C>T, NM_006295.2:c.3695C>A, NT_113891.3:g.3256240G>A, NT_113891.3:g.3256240G>T, NT_113891.2:g.3256346G>A, NT_113891.2:g.3256346G>T, NT_167245.2:g.3026772G>A, NT_167245.2:g.3026772G>T, NT_167245.1:g.3032357G>A, NT_167245.1:g.3032357G>T, NT_167247.2:g.3120887G>A, NT_167247.2:g.3120887G>T, NT_167247.1:g.3126472G>A, NT_167247.1:g.3126472G>T, NT_167244.2:g.3111609G>A, NT_167244.2:g.3111609G>T, NT_167244.1:g.3061525G>A, NT_167244.1:g.3061525G>T, NT_167249.2:g.3078289G>A, NT_167249.2:g.3078289G>T, NT_167249.1:g.3077587G>A, NT_167249.1:g.3077587G>T, XM_005249362.3:c.3698C>T, XM_005249362.3:c.3698C>A, XM_005249362.2:c.3698C>T, XM_005249362.2:c.3698C>A, XM_005249362.1:c.3698C>T, XM_005249362.1:c.3698C>A, XM_047419296.1:c.3698C>T, XM_047419296.1:c.3698C>A, XM_047419297.1:c.3695C>T, XM_047419297.1:c.3695C>A, NP_006286.1:p.Pro1232Leu, NP_006286.1:p.Pro1232Gln, XP_005249419.1:p.Pro1233Leu, XP_005249419.1:p.Pro1233Gln, XP_047275252.1:p.Pro1233Leu, XP_047275252.1:p.Pro1233Gln, XP_047275253.1:p.Pro1232Leu, XP_047275253.1:p.Pro1232Gln

Select item 147032368410.

rs1470323684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31779759 (GRCh38)
6:31747536 (GRCh37)
Canonical SPDI:: NC_000006.12:31779758:C:T
Gene:: VARS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.31779759C>T, NC_000006.11:g.31747536C>T, NG_028229.1:g.21177G>A, NM_006295.3:c.3137G>A, NM_006295.2:c.3137G>A, NT_113891.3:g.3257001C>T, NT_113891.2:g.3257107C>T, NT_167245.2:g.3027533C>T, NT_167245.1:g.3033118C>T, NT_167247.2:g.3121648C>T, NT_167247.1:g.3127233C>T, NT_167244.2:g.3112370C>T, NT_167244.1:g.3062286C>T, NT_167249.2:g.3079050C>T, NT_167249.1:g.3078348C>T, XM_005249362.3:c.3140G>A, XM_005249362.2:c.3140G>A, XM_005249362.1:c.3140G>A, XM_047419296.1:c.3140G>A, XM_047419297.1:c.3137G>A, NP_006286.1:p.Arg1046His, XP_005249419.1:p.Arg1047His, XP_047275252.1:p.Arg1047His, XP_047275253.1:p.Arg1046His

Select item 147023616511.

rs1470236165 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31780892 (GRCh38)
6:31748669 (GRCh37)
Canonical SPDI:: NC_000006.12:31780891:A:G
Gene:: VARS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31780892A>G, NC_000006.11:g.31748669A>G, NG_028229.1:g.20044T>C, NM_006295.3:c.2696T>C, NM_006295.2:c.2696T>C, NT_113891.3:g.3258134A>G, NT_113891.2:g.3258240A>G, NT_167245.2:g.3028666A>G, NT_167245.1:g.3034251A>G, NT_167247.2:g.3122781A>G, NT_167247.1:g.3128366A>G, NT_167244.2:g.3113503A>G, NT_167244.1:g.3063419A>G, NT_167249.2:g.3080183A>G, NT_167249.1:g.3079481A>G, XM_005249362.3:c.2699T>C, XM_005249362.2:c.2699T>C, XM_005249362.1:c.2699T>C, XM_047419296.1:c.2699T>C, XM_047419297.1:c.2696T>C, NP_006286.1:p.Val899Ala, XP_005249419.1:p.Val900Ala, XP_047275252.1:p.Val900Ala, XP_047275253.1:p.Val899Ala

Select item 146870100112.

rs1468701001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31784500 (GRCh38)
6:31752277 (GRCh37)
Canonical SPDI:: NC_000006.12:31784499:C:T
Gene:: VARS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31784500C>T, NC_000006.11:g.31752277C>T, NG_028229.1:g.16436G>A, NM_006295.3:c.1470G>A, NM_006295.2:c.1470G>A, NT_113891.3:g.3261743C>T, NT_113891.2:g.3261849C>T, NT_167245.2:g.3032274C>T, NT_167245.1:g.3037859C>T, NT_167247.2:g.3126390C>T, NT_167247.1:g.3131975C>T, NT_167244.2:g.3117112C>T, NT_167244.1:g.3067028C>T, NT_167249.2:g.3083792C>T, NT_167249.1:g.3083090C>T, XM_005249362.3:c.1473G>A, XM_005249362.2:c.1473G>A, XM_005249362.1:c.1473G>A, XM_047419296.1:c.1473G>A, XM_047419297.1:c.1470G>A, XM_047419298.1:c.1473G>A

Select item 146864465713.

rs1468644657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:31791934 (GRCh38)
6:31759711 (GRCh37)
Canonical SPDI:: NC_000006.12:31791933:C:G
Gene:: VARS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000006.12:g.31791934C>G, NC_000006.11:g.31759711C>G, NG_028229.1:g.9002G>C, NM_006295.3:c.909G>C, NM_006295.2:c.909G>C, NT_113891.3:g.3269174C>G, NT_113891.2:g.3269280C>G, NT_167245.2:g.3039708C>G, NT_167245.1:g.3045293C>G, NT_167247.2:g.3133823C>G, NT_167247.1:g.3139408C>G, NT_167244.2:g.3124545C>G, NT_167244.1:g.3074461C>G, NT_167249.2:g.3091225C>G, NT_167249.1:g.3090523C>G, NT_167248.2:g.3047761C>G, NT_167248.1:g.3053357C>G, XM_005249362.3:c.912G>C, XM_005249362.2:c.912G>C, XM_005249362.1:c.912G>C, XM_047419296.1:c.912G>C, XM_047419298.1:c.912G>C, XM_047419297.1:c.909G>C

Select item 146476545814.

rs1464765458 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31784662 (GRCh38)
6:31752439 (GRCh37)
Canonical SPDI:: NC_000006.12:31784661:A:G
Gene:: VARS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31784662A>G, NC_000006.11:g.31752439A>G, NG_028229.1:g.16274T>C, NM_006295.3:c.1400T>C, NM_006295.2:c.1400T>C, NT_113891.3:g.3261905A>G, NT_113891.2:g.3262011A>G, NT_167245.2:g.3032436A>G, NT_167245.1:g.3038021A>G, NT_167247.2:g.3126552A>G, NT_167247.1:g.3132137A>G, NT_167244.2:g.3117274A>G, NT_167244.1:g.3067190A>G, NT_167249.2:g.3083954A>G, NT_167249.1:g.3083252A>G, XM_005249362.3:c.1403T>C, XM_005249362.2:c.1403T>C, XM_005249362.1:c.1403T>C, XM_047419297.1:c.1400T>C, XM_047419296.1:c.1403T>C, XM_047419298.1:c.1403T>C, NP_006286.1:p.Ile467Thr, XP_005249419.1:p.Ile468Thr, XP_047275253.1:p.Ile467Thr, XP_047275252.1:p.Ile468Thr, XP_047275254.1:p.Ile468Thr

Select item 146453777315.

rs1464537773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31779440 (GRCh38)
6:31747217 (GRCh37)
Canonical SPDI:: NC_000006.12:31779439:G:A
Gene:: VARS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31779440G>A, NC_000006.11:g.31747217G>A, NG_028229.1:g.21496C>T, NM_006295.3:c.3385C>T, NM_006295.2:c.3385C>T, NT_113891.3:g.3256682G>A, NT_113891.2:g.3256788G>A, NT_167245.2:g.3027214G>A, NT_167245.1:g.3032799G>A, NT_167247.2:g.3121329G>A, NT_167247.1:g.3126914G>A, NT_167244.2:g.3112051G>A, NT_167244.1:g.3061967G>A, NT_167249.2:g.3078731G>A, NT_167249.1:g.3078029G>A, XM_005249362.3:c.3388C>T, XM_005249362.2:c.3388C>T, XM_005249362.1:c.3388C>T, XM_047419297.1:c.3385C>T, XM_047419296.1:c.3388C>T, NP_006286.1:p.Arg1129Trp, XP_005249419.1:p.Arg1130Trp, XP_047275253.1:p.Arg1129Trp, XP_047275252.1:p.Arg1130Trp

Select item 146392866016.

rs1463928660 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31779811 (GRCh38)
6:31747588 (GRCh37)
Canonical SPDI:: NC_000006.12:31779810:A:G
Gene:: VARS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31779811A>G, NC_000006.11:g.31747588A>G, NG_028229.1:g.21125T>C, NM_006295.3:c.3085T>C, NM_006295.2:c.3085T>C, NT_113891.3:g.3257053A>G, NT_113891.2:g.3257159A>G, NT_167245.2:g.3027585A>G, NT_167245.1:g.3033170A>G, NT_167247.2:g.3121700A>G, NT_167247.1:g.3127285A>G, NT_167244.2:g.3112422A>G, NT_167244.1:g.3062338A>G, NT_167249.2:g.3079102A>G, NT_167249.1:g.3078400A>G, XM_005249362.3:c.3088T>C, XM_005249362.2:c.3088T>C, XM_005249362.1:c.3088T>C, XM_047419296.1:c.3088T>C, XM_047419297.1:c.3085T>C, NP_006286.1:p.Cys1029Arg, XP_005249419.1:p.Cys1030Arg, XP_047275252.1:p.Cys1030Arg, XP_047275253.1:p.Cys1029Arg

Select item 146312895617.

rs1463128956 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31784469 (GRCh38)
6:31752246 (GRCh37)
Canonical SPDI:: NC_000006.12:31784468:G:A
Gene:: VARS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31784469G>A, NC_000006.11:g.31752246G>A, NG_028229.1:g.16467C>T, NM_006295.3:c.1501C>T, NM_006295.2:c.1501C>T, NT_113891.3:g.3261712G>A, NT_113891.2:g.3261818G>A, NT_167245.2:g.3032243G>A, NT_167245.1:g.3037828G>A, NT_167247.2:g.3126359G>A, NT_167247.1:g.3131944G>A, NT_167244.2:g.3117081G>A, NT_167244.1:g.3066997G>A, NT_167249.2:g.3083761G>A, NT_167249.1:g.3083059G>A, XM_005249362.3:c.1504C>T, XM_005249362.2:c.1504C>T, XM_005249362.1:c.1504C>T, XM_047419296.1:c.1504C>T, XM_047419297.1:c.1501C>T, XM_047419298.1:c.1504C>T, NP_006286.1:p.Leu501Phe, XP_005249419.1:p.Leu502Phe, XP_047275252.1:p.Leu502Phe, XP_047275253.1:p.Leu501Phe, XP_047275254.1:p.Leu502Phe

Select item 146176142518.

rs1461761425 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:31793017 (GRCh38)
6:31760794 (GRCh37)
Canonical SPDI:: NC_000006.12:31793016:G:A,NC_000006.12:31793016:G:C
Gene:: VARS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.001026/29 (TOMMO)
HGVS:: NC_000006.12:g.31793017G>A, NC_000006.12:g.31793017G>C, NC_000006.11:g.31760794G>A, NC_000006.11:g.31760794G>C, NG_028229.1:g.7919C>T, NG_028229.1:g.7919C>G, NM_006295.3:c.491C>T, NM_006295.3:c.491C>G, NM_006295.2:c.491C>T, NM_006295.2:c.491C>G, NT_113891.3:g.3270257G>A, NT_113891.3:g.3270257G>C, NT_113891.2:g.3270363G>A, NT_113891.2:g.3270363G>C, NT_167245.2:g.3040791G>A, NT_167245.2:g.3040791G>C, NT_167245.1:g.3046376G>A, NT_167245.1:g.3046376G>C, NT_167247.2:g.3134906G>A, NT_167247.2:g.3134906G>C, NT_167247.1:g.3140491G>A, NT_167247.1:g.3140491G>C, NT_167244.2:g.3125628G>A, NT_167244.2:g.3125628G>C, NT_167244.1:g.3075544G>A, NT_167244.1:g.3075544G>C, NT_167249.2:g.3092308G>A, NT_167249.2:g.3092308G>C, NT_167249.1:g.3091606G>A, NT_167249.1:g.3091606G>C, NT_167248.2:g.3048844G>A, NT_167248.2:g.3048844G>C, NT_167248.1:g.3054440G>A, NT_167248.1:g.3054440G>C, XM_005249362.3:c.491C>T, XM_005249362.3:c.491C>G, XM_005249362.2:c.491C>T, XM_005249362.2:c.491C>G, XM_005249362.1:c.491C>T, XM_005249362.1:c.491C>G, XM_047419298.1:c.491C>T, XM_047419298.1:c.491C>G, XM_047419296.1:c.491C>T, XM_047419296.1:c.491C>G, XM_047419297.1:c.491C>T, XM_047419297.1:c.491C>G, NP_006286.1:p.Ala164Val, NP_006286.1:p.Ala164Gly, XP_005249419.1:p.Ala164Val, XP_005249419.1:p.Ala164Gly, XP_047275254.1:p.Ala164Val, XP_047275254.1:p.Ala164Gly, XP_047275252.1:p.Ala164Val, XP_047275252.1:p.Ala164Gly, XP_047275253.1:p.Ala164Val, XP_047275253.1:p.Ala164Gly

Select item 146003511219.

rs1460035112 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31794954 (GRCh38)
6:31762731 (GRCh37)
Canonical SPDI:: NC_000006.12:31794953:C:T
Gene:: VARS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31794954C>T, NC_000006.11:g.31762731C>T, NG_028229.1:g.5982G>A, NM_006295.3:c.264G>A, NM_006295.2:c.264G>A, NT_113891.3:g.3272194C>T, NT_113891.2:g.3272300C>T, NT_167245.2:g.3042728C>T, NT_167245.1:g.3048313C>T, NT_167247.2:g.3136843C>T, NT_167247.1:g.3142428C>T, NT_167244.2:g.3127565C>T, NT_167244.1:g.3077481C>T, NT_167249.2:g.3094245C>T, NT_167249.1:g.3093543C>T, NT_167248.2:g.3050781C>T, NT_167248.1:g.3056377C>T, XM_005249362.3:c.264G>A, XM_005249362.2:c.264G>A, XM_005249362.1:c.264G>A, XM_047419296.1:c.264G>A, XM_047419297.1:c.264G>A, XM_047419298.1:c.264G>A

Select item 145889106720.

rs1458891067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31782750 (GRCh38)
6:31750527 (GRCh37)
Canonical SPDI:: NC_000006.12:31782749:C:T
Gene:: VARS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000106/2 (TOMMO)
HGVS:: NC_000006.12:g.31782750C>T, NC_000006.11:g.31750527C>T, NG_028229.1:g.18186G>A, NM_006295.3:c.1858G>A, NM_006295.2:c.1858G>A, NT_113891.3:g.3259992C>T, NT_113891.2:g.3260098C>T, NT_167245.2:g.3030524C>T, NT_167245.1:g.3036109C>T, NT_167247.2:g.3124639C>T, NT_167247.1:g.3130224C>T, NT_167244.2:g.3115361C>T, NT_167244.1:g.3065277C>T, NT_167249.2:g.3082041C>T, NT_167249.1:g.3081339C>T, XM_005249362.3:c.1861G>A, XM_005249362.2:c.1861G>A, XM_005249362.1:c.1861G>A, XM_047419297.1:c.1858G>A, XM_047419296.1:c.1861G>A, XM_047419298.1:c.1861G>A, NP_006286.1:p.Ala620Thr, XP_005249419.1:p.Ala621Thr, XP_047275253.1:p.Ala620Thr, XP_047275252.1:p.Ala621Thr, XP_047275254.1:p.Ala621Thr

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dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

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Links from Protein

Items: 1 to 20 of 1160

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