SNP Links for Protein (Select 5032137) - SNP

Select item 14889611151.

rs1488961115 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: Y:57087027 (GRCh38)
Y:59233178 (GRCh37)
Canonical SPDI:: NC_000024.10:57087027:T:TT
Gene:: VAMP7 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000024.10:g.57087028dup, NC_000024.9:g.59233178dup, NG_021435.2:g.24165dup, NG_021435.1:g.24230dup, NM_005638.6:c.354dup, NM_005638.5:c.354dup, NM_001145149.3:c.231dup, NM_001145149.2:c.231dup, NR_033714.2:n.409dup, NR_033714.1:n.474dup, NR_033715.2:n.402dup, NR_033715.1:n.467dup, NM_001185183.2:c.354dup, NM_001185183.1:c.354dup, NC_000023.11:g.155900508dup, NC_000023.10:g.155130172dup, XM_017029760.2:c.213dup, XM_017029760.1:c.213dup, XM_011531188.2:c.213dup, XM_011531188.1:c.213dup, XM_017030063.2:c.213dup, XM_017030063.1:c.213dup, XM_011545653.2:c.213dup, XM_011545653.1:c.213dup, NP_005629.1:p.Glu119Ter, NP_001138621.1:p.Glu78Ter, NP_001172112.1:p.Glu119Ter, XP_016885552.1:p.Glu72Ter, XP_011543955.1:p.Glu72Ter

Select item 14855552782.

rs1485555278 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: Y:57076059 (GRCh38)
Y:59222208 (GRCh37)
Canonical SPDI:: NC_000024.10:57076058:T:A
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000024.10:g.57076059T>A, NC_000024.9:g.59222208T>A, NG_021435.2:g.13196T>A, NG_021435.1:g.13260T>A, NM_005638.6:c.73T>A, NM_005638.5:c.73T>A, NM_001145149.3:c.73T>A, NM_001145149.2:c.73T>A, NR_033714.2:n.186T>A, NR_033714.1:n.251T>A, NR_033715.2:n.186T>A, NR_033715.1:n.251T>A, NM_001185183.2:c.73T>A, NM_001185183.1:c.73T>A, NC_000023.11:g.155889539T>A, NC_000023.10:g.155119202T>A, XM_017029760.2:c.-90T>A, XM_017029760.1:c.-90T>A, XM_011531188.2:c.-90T>A, XM_011531188.1:c.-90T>A, XM_017030063.2:c.-90T>A, XM_017030063.1:c.-90T>A, XM_011545653.2:c.-90T>A, XM_011545653.1:c.-90T>A, NP_005629.1:p.Phe25Ile, NP_001138621.1:p.Phe25Ile, NP_001172112.1:p.Phe25Ile

Select item 14847204853.

rs1484720485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: Y:57084682 (GRCh38)
Y:59230832 (GRCh37)
Canonical SPDI:: NC_000024.10:57084681:G:T
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000024.10:g.57084682G>T, NC_000024.9:g.59230832G>T, NG_021435.2:g.21819G>T, NG_021435.1:g.21884G>T, NM_005638.6:c.255G>T, NM_005638.5:c.255G>T, NM_001145149.3:c.132G>T, NM_001145149.2:c.132G>T, NR_033714.2:n.310G>T, NR_033714.1:n.375G>T, NR_033715.2:n.303G>T, NR_033715.1:n.368G>T, NM_001185183.2:c.255G>T, NM_001185183.1:c.255G>T, NC_000023.11:g.155898162G>T, NC_000023.10:g.155127826G>T, XM_017029760.2:c.114G>T, XM_017029760.1:c.114G>T, XM_011531188.2:c.114G>T, XM_011531188.1:c.114G>T, XM_017030063.2:c.114G>T, XM_017030063.1:c.114G>T, XM_011545653.2:c.114G>T, XM_011545653.1:c.114G>T, NP_005629.1:p.Arg85Ser, NP_001138621.1:p.Arg44Ser, NP_001172112.1:p.Arg85Ser, XP_016885552.1:p.Arg38Ser, XP_011543955.1:p.Arg38Ser

Select item 14752990314.

rs1475299031 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:57126313 (GRCh38)
Y:59272463 (GRCh37)
Canonical SPDI:: NC_000024.10:57126312:T:C
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000024.10:g.57126313T>C, NC_000024.9:g.59272463T>C, NG_021435.2:g.63450T>C, NG_021435.1:g.63515T>C, NM_005638.6:c.594T>C, NM_005638.5:c.594T>C, NM_001145149.3:c.471T>C, NM_001145149.2:c.471T>C, NR_033714.2:n.649T>C, NR_033714.1:n.714T>C, NR_033715.2:n.642T>C, NR_033715.1:n.707T>C, NM_001185183.2:c.526T>C, NM_001185183.1:c.526T>C, NC_000023.11:g.155939793T>C, NC_000023.10:g.155169457T>C, XM_017029760.2:c.453T>C, XM_017029760.1:c.453T>C, XM_011531188.2:c.385T>C, XM_011531188.1:c.385T>C, XM_017030063.2:c.453T>C, XM_017030063.1:c.453T>C, XM_011545653.2:c.385T>C, XM_011545653.1:c.385T>C, NP_001172112.1:p.Cys176Arg, XP_011543955.1:p.Cys129Arg

Select item 14743143815.

rs1474314381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: Y:57087072 (GRCh38)
Y:59233222 (GRCh37)
Canonical SPDI:: NC_000024.10:57087071:T:G
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.57087072T>G, NC_000024.9:g.59233222T>G, NG_021435.2:g.24209T>G, NG_021435.1:g.24274T>G, NM_005638.6:c.398T>G, NM_005638.5:c.398T>G, NM_001145149.3:c.275T>G, NM_001145149.2:c.275T>G, NR_033714.2:n.453T>G, NR_033714.1:n.518T>G, NR_033715.2:n.446T>G, NR_033715.1:n.511T>G, NM_001185183.2:c.398T>G, NM_001185183.1:c.398T>G, NC_000023.11:g.155900552T>G, NC_000023.10:g.155130216T>G, XM_017029760.2:c.257T>G, XM_017029760.1:c.257T>G, XM_011531188.2:c.257T>G, XM_011531188.1:c.257T>G, XM_017030063.2:c.257T>G, XM_017030063.1:c.257T>G, XM_011545653.2:c.257T>G, XM_011545653.1:c.257T>G, NP_005629.1:p.Val133Gly, NP_001138621.1:p.Val92Gly, NP_001172112.1:p.Val133Gly, XP_016885552.1:p.Val86Gly, XP_011543955.1:p.Val86Gly

Select item 14524757326.

rs1452475732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: Y:57076067 (GRCh38)
Y:59222216 (GRCh37)
Canonical SPDI:: NC_000024.10:57076066:G:T
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000024.10:g.57076067G>T, NC_000024.9:g.59222216G>T, NG_021435.2:g.13204G>T, NG_021435.1:g.13268G>T, NM_005638.6:c.81G>T, NM_005638.5:c.81G>T, NM_001145149.3:c.81G>T, NM_001145149.2:c.81G>T, NR_033714.2:n.194G>T, NR_033714.1:n.259G>T, NR_033715.2:n.194G>T, NR_033715.1:n.259G>T, NM_001185183.2:c.81G>T, NM_001185183.1:c.81G>T, NC_000023.11:g.155889547G>T, NC_000023.10:g.155119210G>T, XM_017029760.2:c.-82G>T, XM_017029760.1:c.-82G>T, XM_011531188.2:c.-82G>T, XM_011531188.1:c.-82G>T, XM_017030063.2:c.-82G>T, XM_017030063.1:c.-82G>T, XM_011545653.2:c.-82G>T, XM_011545653.1:c.-82G>T, NP_005629.1:p.Glu27Asp, NP_001138621.1:p.Glu27Asp, NP_001172112.1:p.Glu27Asp

Select item 14523961607.

rs1452396160 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:57076118 (GRCh38)
Y:59222267 (GRCh37)
Canonical SPDI:: NC_000024.10:57076117:G:A
Gene:: VAMP7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000024.10:g.57076118G>A, NC_000024.9:g.59222267G>A, NG_021435.2:g.13255G>A, NG_021435.1:g.13319G>A, NM_005638.6:c.132G>A, NM_005638.5:c.132G>A, NR_033714.2:n.245G>A, NR_033714.1:n.310G>A, NM_001185183.2:c.132G>A, NM_001185183.1:c.132G>A, NC_000023.11:g.155889598G>A, NC_000023.10:g.155119261G>A, XM_017029760.2:c.-31G>A, XM_017029760.1:c.-31G>A, XM_011531188.2:c.-31G>A, XM_011531188.1:c.-31G>A, XM_017030063.2:c.-31G>A, XM_017030063.1:c.-31G>A, XM_011545653.2:c.-31G>A, XM_011545653.1:c.-31G>A

Select item 14392237788.

rs1439223778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:57084740 (GRCh38)
Y:59230890 (GRCh37)
Canonical SPDI:: NC_000024.10:57084739:G:A
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.57084740G>A, NC_000024.9:g.59230890G>A, NG_021435.2:g.21877G>A, NG_021435.1:g.21942G>A, NM_005638.6:c.313G>A, NM_005638.5:c.313G>A, NM_001145149.3:c.190G>A, NM_001145149.2:c.190G>A, NR_033714.2:n.368G>A, NR_033714.1:n.433G>A, NR_033715.2:n.361G>A, NR_033715.1:n.426G>A, NM_001185183.2:c.313G>A, NM_001185183.1:c.313G>A, NC_000023.11:g.155898220G>A, NC_000023.10:g.155127884G>A, XM_017029760.2:c.172G>A, XM_017029760.1:c.172G>A, XM_011531188.2:c.172G>A, XM_011531188.1:c.172G>A, XM_017030063.2:c.172G>A, XM_017030063.1:c.172G>A, XM_011545653.2:c.172G>A, XM_011545653.1:c.172G>A, NP_005629.1:p.Glu105Lys, NP_001138621.1:p.Glu64Lys, NP_001172112.1:p.Glu105Lys, XP_016885552.1:p.Glu58Lys, XP_011543955.1:p.Glu58Lys

Select item 14316041889.

rs1431604188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:57084646 (GRCh38)
Y:59230796 (GRCh37)
Canonical SPDI:: NC_000024.10:57084645:C:T
Gene:: VAMP7 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000024.10:g.57084646C>T, NC_000024.9:g.59230796C>T, NG_021435.2:g.21783C>T, NG_021435.1:g.21848C>T, NM_005638.6:c.219C>T, NM_005638.5:c.219C>T, NM_001145149.3:c.96C>T, NM_001145149.2:c.96C>T, NR_033714.2:n.274C>T, NR_033714.1:n.339C>T, NR_033715.2:n.267C>T, NR_033715.1:n.332C>T, NM_001185183.2:c.219C>T, NM_001185183.1:c.219C>T, NC_000023.11:g.155898126C>T, NC_000023.10:g.155127790C>T, XM_017029760.2:c.78C>T, XM_017029760.1:c.78C>T, XM_011531188.2:c.78C>T, XM_011531188.1:c.78C>T, XM_017030063.2:c.78C>T, XM_017030063.1:c.78C>T, XM_011545653.2:c.78C>T, XM_011545653.1:c.78C>T

Select item 142352336610.

rs1423523366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:57076071 (GRCh38)
Y:59222220 (GRCh37)
Canonical SPDI:: NC_000024.10:57076070:A:G
Gene:: VAMP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000024.10:g.57076071A>G, NC_000024.9:g.59222220A>G, NG_021435.2:g.13208A>G, NG_021435.1:g.13272A>G, NM_005638.6:c.85A>G, NM_005638.5:c.85A>G, NR_033714.2:n.198A>G, NR_033714.1:n.263A>G, NM_001185183.2:c.85A>G, NM_001185183.1:c.85A>G, NC_000023.11:g.155889551A>G, NC_000023.10:g.155119214A>G, XM_017029760.2:c.-78A>G, XM_017029760.1:c.-78A>G, XM_011531188.2:c.-78A>G, XM_011531188.1:c.-78A>G, XM_017030063.2:c.-78A>G, XM_017030063.1:c.-78A>G, XM_011545653.2:c.-78A>G, XM_011545653.1:c.-78A>G, NP_005629.1:p.Thr29Ala, NP_001172112.1:p.Thr29Ala

Select item 141955876511.

rs1419558765 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:57126311 (GRCh38)
Y:59272461 (GRCh37)
Canonical SPDI:: NC_000024.10:57126310:A:G
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.57126311A>G, NC_000024.9:g.59272461A>G, NG_021435.2:g.63448A>G, NG_021435.1:g.63513A>G, NM_005638.6:c.592A>G, NM_005638.5:c.592A>G, NM_001145149.3:c.469A>G, NM_001145149.2:c.469A>G, NR_033714.2:n.647A>G, NR_033714.1:n.712A>G, NR_033715.2:n.640A>G, NR_033715.1:n.705A>G, NM_001185183.2:c.524A>G, NM_001185183.1:c.524A>G, NC_000023.11:g.155939791A>G, NC_000023.10:g.155169455A>G, XM_017029760.2:c.451A>G, XM_017029760.1:c.451A>G, XM_011531188.2:c.383A>G, XM_011531188.1:c.383A>G, XM_017030063.2:c.451A>G, XM_017030063.1:c.451A>G, XM_011545653.2:c.383A>G, XM_011545653.1:c.383A>G, NP_005629.1:p.Ile198Val, NP_001138621.1:p.Ile157Val, NP_001172112.1:p.Asn175Ser, XP_016885552.1:p.Ile151Val, XP_011543955.1:p.Asn128Ser

Select item 140196170512.

rs1401961705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: Y:57084719 (GRCh38)
Y:59230869 (GRCh37)
Canonical SPDI:: NC_000024.10:57084718:C:G
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000024.10:g.57084719C>G, NC_000024.9:g.59230869C>G, NG_021435.2:g.21856C>G, NG_021435.1:g.21921C>G, NM_005638.6:c.292C>G, NM_005638.5:c.292C>G, NM_001145149.3:c.169C>G, NM_001145149.2:c.169C>G, NR_033714.2:n.347C>G, NR_033714.1:n.412C>G, NR_033715.2:n.340C>G, NR_033715.1:n.405C>G, NM_001185183.2:c.292C>G, NM_001185183.1:c.292C>G, NC_000023.11:g.155898199C>G, NC_000023.10:g.155127863C>G, XM_017029760.2:c.151C>G, XM_017029760.1:c.151C>G, XM_011531188.2:c.151C>G, XM_011531188.1:c.151C>G, XM_017030063.2:c.151C>G, XM_017030063.1:c.151C>G, XM_011545653.2:c.151C>G, XM_011545653.1:c.151C>G, NP_005629.1:p.Leu98Val, NP_001138621.1:p.Leu57Val, NP_001172112.1:p.Leu98Val, XP_016885552.1:p.Leu51Val, XP_011543955.1:p.Leu51Val

Select item 139733637813.

rs1397336378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: Y:57082198 (GRCh38)
Y:59228347 (GRCh37)
Canonical SPDI:: NC_000024.10:57082197:G:T
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000024.10:g.57082198G>T, NC_000024.9:g.59228347G>T, NG_021435.2:g.19335G>T, NG_021435.1:g.19399G>T, NM_005638.6:c.202G>T, NM_005638.5:c.202G>T, NR_033715.2:n.250G>T, NR_033715.1:n.315G>T, NM_001185183.2:c.202G>T, NM_001185183.1:c.202G>T, NC_000023.11:g.155895678G>T, NC_000023.10:g.155125341G>T, XM_017029760.2:c.61G>T, XM_017029760.1:c.61G>T, XM_011531188.2:c.61G>T, XM_011531188.1:c.61G>T, XM_017030063.2:c.61G>T, XM_017030063.1:c.61G>T, XM_011545653.2:c.61G>T, XM_011545653.1:c.61G>T, NP_005629.1:p.Asp68Tyr, NP_001172112.1:p.Asp68Tyr, XP_016885552.1:p.Asp21Tyr, XP_011543955.1:p.Asp21Tyr

Select item 139419345414.

rs1394193454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:57087027 (GRCh38)
Y:59233177 (GRCh37)
Canonical SPDI:: NC_000024.10:57087026:C:T
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000024.10:g.57087027C>T, NC_000024.9:g.59233177C>T, NG_021435.2:g.24164C>T, NG_021435.1:g.24229C>T, NM_005638.6:c.353C>T, NM_005638.5:c.353C>T, NM_001145149.3:c.230C>T, NM_001145149.2:c.230C>T, NR_033714.2:n.408C>T, NR_033714.1:n.473C>T, NR_033715.2:n.401C>T, NR_033715.1:n.466C>T, NM_001185183.2:c.353C>T, NM_001185183.1:c.353C>T, NC_000023.11:g.155900507C>T, NC_000023.10:g.155130171C>T, XM_017029760.2:c.212C>T, XM_017029760.1:c.212C>T, XM_011531188.2:c.212C>T, XM_011531188.1:c.212C>T, XM_017030063.2:c.212C>T, XM_017030063.1:c.212C>T, XM_011545653.2:c.212C>T, XM_011545653.1:c.212C>T, NP_005629.1:p.Ser118Phe, NP_001138621.1:p.Ser77Phe, NP_001172112.1:p.Ser118Phe, XP_016885552.1:p.Ser71Phe, XP_011543955.1:p.Ser71Phe

Select item 139325476515.

rs1393254765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: Y:57076002 (GRCh38)
Y:59222151 (GRCh37)
Canonical SPDI:: NC_000024.10:57076001:G:T
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000024.10:g.57076002G>T, NC_000024.9:g.59222151G>T, NG_021435.2:g.13139G>T, NG_021435.1:g.13203G>T, NM_005638.6:c.16G>T, NM_005638.5:c.16G>T, NM_001145149.3:c.16G>T, NM_001145149.2:c.16G>T, NR_033714.2:n.129G>T, NR_033714.1:n.194G>T, NR_033715.2:n.129G>T, NR_033715.1:n.194G>T, NM_001185183.2:c.16G>T, NM_001185183.1:c.16G>T, NC_000023.11:g.155889482G>T, NC_000023.10:g.155119145G>T, XM_017029760.2:c.-147G>T, XM_017029760.1:c.-147G>T, XM_011531188.2:c.-147G>T, XM_011531188.1:c.-147G>T, XM_017030063.2:c.-147G>T, XM_017030063.1:c.-147G>T, XM_011545653.2:c.-147G>T, XM_011545653.1:c.-147G>T, NP_005629.1:p.Ala6Ser, NP_001138621.1:p.Ala6Ser, NP_001172112.1:p.Ala6Ser

Select item 138346500016.

rs1383465000 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: Y:57084635 (GRCh38)
Y:59230785 (GRCh37)
Canonical SPDI:: NC_000024.10:57084634:T:A
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000024.10:g.57084635T>A, NC_000024.9:g.59230785T>A, NG_021435.2:g.21772T>A, NG_021435.1:g.21837T>A, NM_005638.6:c.208T>A, NM_005638.5:c.208T>A, NM_001145149.3:c.85T>A, NM_001145149.2:c.85T>A, NR_033714.2:n.263T>A, NR_033714.1:n.328T>A, NR_033715.2:n.256T>A, NR_033715.1:n.321T>A, NM_001185183.2:c.208T>A, NM_001185183.1:c.208T>A, NC_000023.11:g.155898115T>A, NC_000023.10:g.155127779T>A, XM_017029760.2:c.67T>A, XM_017029760.1:c.67T>A, XM_011531188.2:c.67T>A, XM_011531188.1:c.67T>A, XM_017030063.2:c.67T>A, XM_017030063.1:c.67T>A, XM_011545653.2:c.67T>A, XM_011545653.1:c.67T>A, NP_005629.1:p.Phe70Ile, NP_001138621.1:p.Phe29Ile, NP_001172112.1:p.Phe70Ile, XP_016885552.1:p.Phe23Ile, XP_011543955.1:p.Phe23Ile

Select item 137416123817.

rs1374161238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: Y:57076011 (GRCh38)
Y:59222160 (GRCh37)
Canonical SPDI:: NC_000024.10:57076010:G:A,NC_000024.10:57076010:G:T
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000024.10:g.57076011G>A, NC_000024.10:g.57076011G>T, NC_000024.9:g.59222160G>A, NC_000024.9:g.59222160G>T, NG_021435.2:g.13148G>A, NG_021435.2:g.13148G>T, NG_021435.1:g.13212G>A, NG_021435.1:g.13212G>T, NM_005638.6:c.25G>A, NM_005638.6:c.25G>T, NM_005638.5:c.25G>A, NM_005638.5:c.25G>T, NM_001145149.3:c.25G>A, NM_001145149.3:c.25G>T, NM_001145149.2:c.25G>A, NM_001145149.2:c.25G>T, NR_033714.2:n.138G>A, NR_033714.2:n.138G>T, NR_033714.1:n.203G>A, NR_033714.1:n.203G>T, NR_033715.2:n.138G>A, NR_033715.2:n.138G>T, NR_033715.1:n.203G>A, NR_033715.1:n.203G>T, NM_001185183.2:c.25G>A, NM_001185183.2:c.25G>T, NM_001185183.1:c.25G>A, NM_001185183.1:c.25G>T, NC_000023.11:g.155889491G>A, NC_000023.11:g.155889491G>T, NC_000023.10:g.155119154G>A, NC_000023.10:g.155119154G>T, XM_017029760.2:c.-138G>A, XM_017029760.2:c.-138G>T, XM_017029760.1:c.-138G>A, XM_017029760.1:c.-138G>T, XM_011531188.2:c.-138G>A, XM_011531188.2:c.-138G>T, XM_011531188.1:c.-138G>A, XM_011531188.1:c.-138G>T, XM_017030063.2:c.-138G>A, XM_017030063.2:c.-138G>T, XM_017030063.1:c.-138G>A, XM_017030063.1:c.-138G>T, XM_011545653.2:c.-138G>A, XM_011545653.2:c.-138G>T, XM_011545653.1:c.-138G>A, XM_011545653.1:c.-138G>T, NP_005629.1:p.Ala9Thr, NP_005629.1:p.Ala9Ser, NP_001138621.1:p.Ala9Thr, NP_001138621.1:p.Ala9Ser, NP_001172112.1:p.Ala9Thr, NP_001172112.1:p.Ala9Ser

Select item 136145259618.

rs1361452596 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: Y:57087090 (GRCh38)
Y:59233240 (GRCh37)
Canonical SPDI:: NC_000024.10:57087089:T:G
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.57087090T>G, NC_000024.9:g.59233240T>G, NG_021435.2:g.24227T>G, NG_021435.1:g.24292T>G, NM_005638.6:c.416T>G, NM_005638.5:c.416T>G, NM_001145149.3:c.293T>G, NM_001145149.2:c.293T>G, NR_033714.2:n.471T>G, NR_033714.1:n.536T>G, NR_033715.2:n.464T>G, NR_033715.1:n.529T>G, NM_001185183.2:c.416T>G, NM_001185183.1:c.416T>G, NC_000023.11:g.155900570T>G, NC_000023.10:g.155130234T>G, XM_017029760.2:c.275T>G, XM_017029760.1:c.275T>G, XM_011531188.2:c.275T>G, XM_011531188.1:c.275T>G, XM_017030063.2:c.275T>G, XM_017030063.1:c.275T>G, XM_011545653.2:c.275T>G, XM_011545653.1:c.275T>G, NP_005629.1:p.Ile139Ser, NP_001138621.1:p.Ile98Ser, NP_001172112.1:p.Ile139Ser, XP_016885552.1:p.Ile92Ser, XP_011543955.1:p.Ile92Ser

Select item 135801718219.

rs1358017182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:57128425 (GRCh38)
Y:59274575 (GRCh37)
Canonical SPDI:: NC_000024.10:57128424:C:T
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000024.10:g.57128425C>T, NC_000024.9:g.59274575C>T, NG_021435.2:g.65562C>T, NG_021435.1:g.65627C>T, NM_005638.6:c.617C>T, NM_005638.5:c.617C>T, NM_001145149.3:c.494C>T, NM_001145149.2:c.494C>T, NR_033714.2:n.672C>T, NR_033714.1:n.737C>T, NR_033715.2:n.665C>T, NR_033715.1:n.730C>T, NM_001185183.2:c.549C>T, NM_001185183.1:c.549C>T, NC_000023.11:g.155941905C>T, NC_000023.10:g.155171569C>T, XM_017029760.2:c.476C>T, XM_017029760.1:c.476C>T, XM_011531188.2:c.408C>T, XM_011531188.1:c.408C>T, XM_017030063.2:c.476C>T, XM_017030063.1:c.476C>T, XM_011545653.2:c.408C>T, XM_011545653.1:c.408C>T, NP_005629.1:p.Ser206Leu, NP_001138621.1:p.Ser165Leu, XP_016885552.1:p.Ser159Leu

Select item 134794499520.

rs1347944995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:57128460 (GRCh38)
Y:59274610 (GRCh37)
Canonical SPDI:: NC_000024.10:57128459:G:A
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000024.10:g.57128460G>A, NC_000024.9:g.59274610G>A, NG_021435.2:g.65597G>A, NG_021435.1:g.65662G>A, NM_005638.6:c.652G>A, NM_005638.5:c.652G>A, NM_001145149.3:c.529G>A, NM_001145149.2:c.529G>A, NR_033714.2:n.707G>A, NR_033714.1:n.772G>A, NR_033715.2:n.700G>A, NR_033715.1:n.765G>A, NM_001185183.2:c.584G>A, NM_001185183.1:c.584G>A, NC_000023.11:g.155941940G>A, NC_000023.10:g.155171604G>A, XM_017029760.2:c.511G>A, XM_017029760.1:c.511G>A, XM_011531188.2:c.443G>A, XM_011531188.1:c.443G>A, XM_017030063.2:c.511G>A, XM_017030063.1:c.511G>A, XM_011545653.2:c.443G>A, XM_011545653.1:c.443G>A, NP_005629.1:p.Val218Met, NP_001138621.1:p.Val177Met, NP_001172112.1:p.Cys195Tyr, XP_016885552.1:p.Val171Met, XP_011543955.1:p.Cys148Tyr

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Result Filters

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Items: 1 to 20 of 173

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