SNP Links for Protein (Select 1034646056) - SNP

Links from Protein

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Select item 14877416371.

rs1487741637 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:138087928 (GRCh38)
5:137423617 (GRCh37)
Canonical SPDI:: NC_000005.10:138087927:A:T
Gene:: WNT8A (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000005.10:g.138087928A>T, NC_000005.9:g.137423617A>T, NM_058244.4:c.364A>T, NM_058244.3:c.364A>T, NM_058244.2:c.364A>T, NM_001300939.2:c.418A>T, NM_001300939.1:c.418A>T, XM_017009826.2:c.76A>T, XM_017009826.1:c.76A>T, NR_125351.2:n.421A>T, NR_125351.1:n.562A>T, NM_001300938.2:c.418A>T, NM_001300938.1:c.418A>T, XM_047417692.1:c.76A>T, XM_047417693.1:c.76A>T, NM_031933.1:c.364A>T, NP_490645.1:p.Thr122Ser, NP_001287868.1:p.Thr140Ser, XP_016865315.1:p.Thr26Ser, NP_001287867.1:p.Thr140Ser, XP_047273648.1:p.Thr26Ser, XP_047273649.1:p.Thr26Ser

Select item 14826867582.

rs1482686758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:138091057 (GRCh38)
5:137426746 (GRCh37)
Canonical SPDI:: NC_000005.10:138091056:G:A
Gene:: WNT8A (Varview)
Functional Consequence:: splice_donor_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.138091057G>A, NC_000005.9:g.137426746G>A, NM_058244.4:c.1040G>A, NM_058244.3:c.1040G>A, NM_058244.2:c.1040G>A, NM_001300939.2:c.1094G>A, NM_001300939.1:c.1094G>A, XM_017009826.2:c.752G>A, XM_017009826.1:c.752G>A, XM_047417692.1:c.752G>A, XM_047417693.1:c.752G>A, NP_490645.1:p.Gly347Asp, NP_001287868.1:p.Gly365Asp, XP_016865315.1:p.Gly251Asp, XP_047273648.1:p.Gly251Asp, XP_047273649.1:p.Gly251Asp

Select item 14811492493.

rs1481149249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:138089010 (GRCh38)
5:137424699 (GRCh37)
Canonical SPDI:: NC_000005.10:138089009:G:A,NC_000005.10:138089009:G:T
Gene:: WNT8A (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.138089010G>A, NC_000005.10:g.138089010G>T, NC_000005.9:g.137424699G>A, NC_000005.9:g.137424699G>T, NM_058244.4:c.451G>A, NM_058244.4:c.451G>T, NM_058244.3:c.451G>A, NM_058244.3:c.451G>T, NM_058244.2:c.451G>A, NM_058244.2:c.451G>T, NM_001300939.2:c.505G>A, NM_001300939.2:c.505G>T, NM_001300939.1:c.505G>A, NM_001300939.1:c.505G>T, XM_017009826.2:c.163G>A, XM_017009826.2:c.163G>T, XM_017009826.1:c.163G>A, XM_017009826.1:c.163G>T, NR_125351.2:n.508G>A, NR_125351.2:n.508G>T, NR_125351.1:n.649G>A, NR_125351.1:n.649G>T, NM_001300938.2:c.505G>A, NM_001300938.2:c.505G>T, NM_001300938.1:c.505G>A, NM_001300938.1:c.505G>T, XM_047417692.1:c.163G>A, XM_047417692.1:c.163G>T, XM_047417693.1:c.163G>A, XM_047417693.1:c.163G>T, NM_031933.1:c.451G>A, NM_031933.1:c.451G>T, NP_490645.1:p.Glu151Lys, NP_490645.1:p.Glu151Ter, NP_001287868.1:p.Glu169Lys, NP_001287868.1:p.Glu169Ter, XP_016865315.1:p.Glu55Lys, XP_016865315.1:p.Glu55Ter, NP_001287867.1:p.Glu169Lys, NP_001287867.1:p.Glu169Ter, XP_047273648.1:p.Glu55Lys, XP_047273648.1:p.Glu55Ter, XP_047273649.1:p.Glu55Lys, XP_047273649.1:p.Glu55Ter

Select item 14810843824.

rs1481084382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:138090735 (GRCh38)
5:137426424 (GRCh37)
Canonical SPDI:: NC_000005.10:138090734:G:A
Gene:: WNT8A (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.138090735G>A, NC_000005.9:g.137426424G>A, NM_058244.4:c.718G>A, NM_058244.3:c.718G>A, NM_058244.2:c.718G>A, NM_001300939.2:c.772G>A, NM_001300939.1:c.772G>A, XM_017009826.2:c.430G>A, XM_017009826.1:c.430G>A, NR_125351.2:n.775G>A, NR_125351.1:n.916G>A, NM_001300938.2:c.772G>A, NM_001300938.1:c.772G>A, XM_047417692.1:c.430G>A, XM_047417693.1:c.430G>A, NM_031933.1:c.718G>A, NP_490645.1:p.Ala240Thr, NP_001287868.1:p.Ala258Thr, XP_016865315.1:p.Ala144Thr, NP_001287867.1:p.Ala258Thr, XP_047273648.1:p.Ala144Thr, XP_047273649.1:p.Ala144Thr

Select item 14719641675.

rs1471964167 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:138090658 (GRCh38)
5:137426347 (GRCh37)
Canonical SPDI:: NC_000005.10:138090657:A:G
Gene:: WNT8A (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.138090658A>G, NC_000005.9:g.137426347A>G, NM_058244.4:c.641A>G, NM_058244.3:c.641A>G, NM_058244.2:c.641A>G, NM_001300939.2:c.695A>G, NM_001300939.1:c.695A>G, XM_017009826.2:c.353A>G, XM_017009826.1:c.353A>G, NR_125351.2:n.698A>G, NR_125351.1:n.839A>G, NM_001300938.2:c.695A>G, NM_001300938.1:c.695A>G, XM_047417692.1:c.353A>G, XM_047417693.1:c.353A>G, NM_031933.1:c.641A>G, NP_490645.1:p.Gln214Arg, NP_001287868.1:p.Gln232Arg, XP_016865315.1:p.Gln118Arg, NP_001287867.1:p.Gln232Arg, XP_047273648.1:p.Gln118Arg, XP_047273649.1:p.Gln118Arg

Select item 14680073016.

rs1468007301 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:138088933 (GRCh38)
5:137424622 (GRCh37)
Canonical SPDI:: NC_000005.10:138088932:A:C,NC_000005.10:138088932:A:G
Gene:: WNT8A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.138088933A>C, NC_000005.10:g.138088933A>G, NC_000005.9:g.137424622A>C, NC_000005.9:g.137424622A>G, NM_058244.4:c.374A>C, NM_058244.4:c.374A>G, NM_058244.3:c.374A>C, NM_058244.3:c.374A>G, NM_058244.2:c.374A>C, NM_058244.2:c.374A>G, NM_001300939.2:c.428A>C, NM_001300939.2:c.428A>G, NM_001300939.1:c.428A>C, NM_001300939.1:c.428A>G, XM_017009826.2:c.86A>C, XM_017009826.2:c.86A>G, XM_017009826.1:c.86A>C, XM_017009826.1:c.86A>G, NR_125351.2:n.431A>C, NR_125351.2:n.431A>G, NR_125351.1:n.572A>C, NR_125351.1:n.572A>G, NM_001300938.2:c.428A>C, NM_001300938.2:c.428A>G, NM_001300938.1:c.428A>C, NM_001300938.1:c.428A>G, XM_047417692.1:c.86A>C, XM_047417692.1:c.86A>G, XM_047417693.1:c.86A>C, XM_047417693.1:c.86A>G, NM_031933.1:c.374A>C, NM_031933.1:c.374A>G, NP_490645.1:p.His125Pro, NP_490645.1:p.His125Arg, NP_001287868.1:p.His143Pro, NP_001287868.1:p.His143Arg, XP_016865315.1:p.His29Pro, XP_016865315.1:p.His29Arg, NP_001287867.1:p.His143Pro, NP_001287867.1:p.His143Arg, XP_047273648.1:p.His29Pro, XP_047273648.1:p.His29Arg, XP_047273649.1:p.His29Pro, XP_047273649.1:p.His29Arg

Select item 14669881307.

rs1466988130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:138090781 (GRCh38)
5:137426470 (GRCh37)
Canonical SPDI:: NC_000005.10:138090780:C:T
Gene:: WNT8A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_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_000005.10:g.138090781C>T, NC_000005.9:g.137426470C>T, NM_058244.4:c.764C>T, NM_058244.3:c.764C>T, NM_058244.2:c.764C>T, NM_001300939.2:c.818C>T, NM_001300939.1:c.818C>T, XM_017009826.2:c.476C>T, XM_017009826.1:c.476C>T, NR_125351.2:n.821C>T, NR_125351.1:n.962C>T, NM_001300938.2:c.818C>T, NM_001300938.1:c.818C>T, XM_047417692.1:c.476C>T, XM_047417693.1:c.476C>T, NM_031933.1:c.764C>T, NP_490645.1:p.Ser255Leu, NP_001287868.1:p.Ser273Leu, XP_016865315.1:p.Ser159Leu, NP_001287867.1:p.Ser273Leu, XP_047273648.1:p.Ser159Leu, XP_047273649.1:p.Ser159Leu

Select item 14544536948.

rs1454453694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:138089054 (GRCh38)
5:137424743 (GRCh37)
Canonical SPDI:: NC_000005.10:138089053:C:T
Gene:: WNT8A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.138089054C>T, NC_000005.9:g.137424743C>T, NM_058244.4:c.495C>T, NM_058244.3:c.495C>T, NM_058244.2:c.495C>T, NM_001300939.2:c.549C>T, NM_001300939.1:c.549C>T, XM_017009826.2:c.207C>T, XM_017009826.1:c.207C>T, NR_125351.2:n.552C>T, NR_125351.1:n.693C>T, NM_001300938.2:c.549C>T, NM_001300938.1:c.549C>T, XM_047417692.1:c.207C>T, XM_047417693.1:c.207C>T, NM_031933.1:c.495C>T

Select item 14474962459.

rs1447496245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:138089009 (GRCh38)
5:137424698 (GRCh37)
Canonical SPDI:: NC_000005.10:138089008:G:A
Gene:: WNT8A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_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_000005.10:g.138089009G>A, NC_000005.9:g.137424698G>A, NM_058244.4:c.450G>A, NM_058244.3:c.450G>A, NM_058244.2:c.450G>A, NM_001300939.2:c.504G>A, NM_001300939.1:c.504G>A, XM_017009826.2:c.162G>A, XM_017009826.1:c.162G>A, NR_125351.2:n.507G>A, NR_125351.1:n.648G>A, NM_001300938.2:c.504G>A, NM_001300938.1:c.504G>A, XM_047417692.1:c.162G>A, XM_047417693.1:c.162G>A, NM_031933.1:c.450G>A

Select item 144660727210.

rs1446607272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:138090572 (GRCh38)
5:137426261 (GRCh37)
Canonical SPDI:: NC_000005.10:138090571:C:A
Gene:: WNT8A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.138090572C>A, NC_000005.9:g.137426261C>A, NM_058244.4:c.555C>A, NM_058244.3:c.555C>A, NM_058244.2:c.555C>A, NM_001300939.2:c.609C>A, NM_001300939.1:c.609C>A, XM_017009826.2:c.267C>A, XM_017009826.1:c.267C>A, NR_125351.2:n.612C>A, NR_125351.1:n.753C>A, NM_001300938.2:c.609C>A, NM_001300938.1:c.609C>A, XM_047417692.1:c.267C>A, XM_047417693.1:c.267C>A, NM_031933.1:c.555C>A

Select item 144477670611.

rs1444776706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:138090977 (GRCh38)
5:137426666 (GRCh37)
Canonical SPDI:: NC_000005.10:138090976:T:G
Gene:: WNT8A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.0001/1 (ALFA)
HGVS:: NC_000005.10:g.138090977T>G, NC_000005.9:g.137426666T>G, NM_058244.4:c.960T>G, NM_058244.3:c.960T>G, NM_058244.2:c.960T>G, NM_001300939.2:c.1014T>G, NM_001300939.1:c.1014T>G, XM_017009826.2:c.672T>G, XM_017009826.1:c.672T>G, NR_125351.2:n.1017T>G, NR_125351.1:n.1158T>G, NM_001300938.2:c.1014T>G, NM_001300938.1:c.1014T>G, XM_047417692.1:c.672T>G, XM_047417693.1:c.672T>G, NM_031933.1:c.960T>G, NP_490645.1:p.Cys320Trp, NP_001287868.1:p.Cys338Trp, XP_016865315.1:p.Cys224Trp, NP_001287867.1:p.Cys338Trp, XP_047273648.1:p.Cys224Trp, XP_047273649.1:p.Cys224Trp

Select item 144084093712.

rs1440840937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:138090718 (GRCh38)
5:137426407 (GRCh37)
Canonical SPDI:: NC_000005.10:138090717:A:G
Gene:: WNT8A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.138090718A>G, NC_000005.9:g.137426407A>G, NM_058244.4:c.701A>G, NM_058244.3:c.701A>G, NM_058244.2:c.701A>G, NM_001300939.2:c.755A>G, NM_001300939.1:c.755A>G, XM_017009826.2:c.413A>G, XM_017009826.1:c.413A>G, NR_125351.2:n.758A>G, NR_125351.1:n.899A>G, NM_001300938.2:c.755A>G, NM_001300938.1:c.755A>G, XM_047417692.1:c.413A>G, XM_047417693.1:c.413A>G, NM_031933.1:c.701A>G, NP_490645.1:p.His234Arg, NP_001287868.1:p.His252Arg, XP_016865315.1:p.His138Arg, NP_001287867.1:p.His252Arg, XP_047273648.1:p.His138Arg, XP_047273649.1:p.His138Arg

Select item 144011313913.

rs1440113139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:138090899 (GRCh38)
5:137426588 (GRCh37)
Canonical SPDI:: NC_000005.10:138090898:C:A
Gene:: WNT8A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained
HGVS:: NC_000005.10:g.138090899C>A, NC_000005.9:g.137426588C>A, NM_058244.4:c.882C>A, NM_058244.3:c.882C>A, NM_058244.2:c.882C>A, NM_001300939.2:c.936C>A, NM_001300939.1:c.936C>A, XM_017009826.2:c.594C>A, XM_017009826.1:c.594C>A, NR_125351.2:n.939C>A, NR_125351.1:n.1080C>A, NM_001300938.2:c.936C>A, NM_001300938.1:c.936C>A, XM_047417692.1:c.594C>A, XM_047417693.1:c.594C>A, NM_031933.1:c.882C>A, NP_490645.1:p.Cys294Ter, NP_001287868.1:p.Cys312Ter, XP_016865315.1:p.Cys198Ter, NP_001287867.1:p.Cys312Ter, XP_047273648.1:p.Cys198Ter, XP_047273649.1:p.Cys198Ter

Select item 143304567414.

rs1433045674 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:138090817 (GRCh38)
5:137426506 (GRCh37)
Canonical SPDI:: NC_000005.10:138090816:T:C
Gene:: WNT8A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.138090817T>C, NC_000005.9:g.137426506T>C, NM_058244.4:c.800T>C, NM_058244.3:c.800T>C, NM_058244.2:c.800T>C, NM_001300939.2:c.854T>C, NM_001300939.1:c.854T>C, XM_017009826.2:c.512T>C, XM_017009826.1:c.512T>C, NR_125351.2:n.857T>C, NR_125351.1:n.998T>C, NM_001300938.2:c.854T>C, NM_001300938.1:c.854T>C, XM_047417692.1:c.512T>C, XM_047417693.1:c.512T>C, NM_031933.1:c.800T>C, NP_490645.1:p.Ile267Thr, NP_001287868.1:p.Ile285Thr, XP_016865315.1:p.Ile171Thr, NP_001287867.1:p.Ile285Thr, XP_047273648.1:p.Ile171Thr, XP_047273649.1:p.Ile171Thr

Select item 143254585315.

rs1432545853 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:138090702 (GRCh38)
5:137426391 (GRCh37)
Canonical SPDI:: NC_000005.10:138090701:A:C
Gene:: WNT8A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.138090702A>C, NC_000005.9:g.137426391A>C, NM_058244.4:c.685A>C, NM_058244.3:c.685A>C, NM_058244.2:c.685A>C, NM_001300939.2:c.739A>C, NM_001300939.1:c.739A>C, XM_017009826.2:c.397A>C, XM_017009826.1:c.397A>C, NR_125351.2:n.742A>C, NR_125351.1:n.883A>C, NM_001300938.2:c.739A>C, NM_001300938.1:c.739A>C, XM_047417692.1:c.397A>C, XM_047417693.1:c.397A>C, NM_031933.1:c.685A>C, NP_490645.1:p.Asn229His, NP_001287868.1:p.Asn247His, XP_016865315.1:p.Asn133His, NP_001287867.1:p.Asn247His, XP_047273648.1:p.Asn133His, XP_047273649.1:p.Asn133His

Select item 142848626416.

rs1428486264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:138089025 (GRCh38)
5:137424714 (GRCh37)
Canonical SPDI:: NC_000005.10:138089024:G:A
Gene:: WNT8A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.138089025G>A, NC_000005.9:g.137424714G>A, NM_058244.4:c.466G>A, NM_058244.3:c.466G>A, NM_058244.2:c.466G>A, NM_001300939.2:c.520G>A, NM_001300939.1:c.520G>A, XM_017009826.2:c.178G>A, XM_017009826.1:c.178G>A, NR_125351.2:n.523G>A, NR_125351.1:n.664G>A, NM_001300938.2:c.520G>A, NM_001300938.1:c.520G>A, XM_047417692.1:c.178G>A, XM_047417693.1:c.178G>A, NM_031933.1:c.466G>A, NP_490645.1:p.Ala156Thr, NP_001287868.1:p.Ala174Thr, XP_016865315.1:p.Ala60Thr, NP_001287867.1:p.Ala174Thr, XP_047273648.1:p.Ala60Thr, XP_047273649.1:p.Ala60Thr

Select item 142367465517.

rs1423674655 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:138087863 (GRCh38)
5:137423552 (GRCh37)
Canonical SPDI:: NC_000005.10:138087862:T:C
Gene:: WNT8A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.138087863T>C, NC_000005.9:g.137423552T>C, NM_058244.4:c.299T>C, NM_058244.3:c.299T>C, NM_058244.2:c.299T>C, NM_001300939.2:c.353T>C, NM_001300939.1:c.353T>C, XM_017009826.2:c.11T>C, XM_017009826.1:c.11T>C, NR_125351.2:n.356T>C, NR_125351.1:n.497T>C, NM_001300938.2:c.353T>C, NM_001300938.1:c.353T>C, XM_047417692.1:c.11T>C, XM_047417693.1:c.11T>C, NM_031933.1:c.299T>C, NP_490645.1:p.Ile100Thr, NP_001287868.1:p.Ile118Thr, XP_016865315.1:p.Ile4Thr, NP_001287867.1:p.Ile118Thr, XP_047273648.1:p.Ile4Thr, XP_047273649.1:p.Ile4Thr

Select item 142351529518.

rs1423515295 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:138090744 (GRCh38)
5:137426433 (GRCh37)
Canonical SPDI:: NC_000005.10:138090743:CC:C
Gene:: WNT8A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.138090745del, NC_000005.9:g.137426434del, NM_058244.4:c.728del, NM_058244.3:c.728del, NM_058244.2:c.728del, NM_001300939.2:c.782del, NM_001300939.1:c.782del, XM_017009826.2:c.440del, XM_017009826.1:c.440del, NR_125351.2:n.785del, NR_125351.1:n.926del, NM_001300938.2:c.782del, NM_001300938.1:c.782del, XM_047417692.1:c.440del, XM_047417693.1:c.440del, NM_031933.1:c.728del, NP_490645.1:p.Pro243fs, NP_001287868.1:p.Pro261fs, XP_016865315.1:p.Pro147fs, NP_001287867.1:p.Pro261fs, XP_047273648.1:p.Pro147fs, XP_047273649.1:p.Pro147fs

Select item 142126886119.

rs1421268861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:138088948 (GRCh38)
5:137424637 (GRCh37)
Canonical SPDI:: NC_000005.10:138088947:G:A
Gene:: WNT8A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.138088948G>A, NC_000005.9:g.137424637G>A, NM_058244.4:c.389G>A, NM_058244.3:c.389G>A, NM_058244.2:c.389G>A, NM_001300939.2:c.443G>A, NM_001300939.1:c.443G>A, XM_017009826.2:c.101G>A, XM_017009826.1:c.101G>A, NR_125351.2:n.446G>A, NR_125351.1:n.587G>A, NM_001300938.2:c.443G>A, NM_001300938.1:c.443G>A, XM_047417692.1:c.101G>A, XM_047417693.1:c.101G>A, NM_031933.1:c.389G>A, NP_490645.1:p.Gly130Glu, NP_001287868.1:p.Gly148Glu, XP_016865315.1:p.Gly34Glu, NP_001287867.1:p.Gly148Glu, XP_047273648.1:p.Gly34Glu, XP_047273649.1:p.Gly34Glu

Select item 141052949420.

rs1410529494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:138090952 (GRCh38)
5:137426641 (GRCh37)
Canonical SPDI:: NC_000005.10:138090951:G:A
Gene:: WNT8A (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.138090952G>A, NC_000005.9:g.137426641G>A, NM_058244.4:c.935G>A, NM_058244.3:c.935G>A, NM_058244.2:c.935G>A, NM_001300939.2:c.989G>A, NM_001300939.1:c.989G>A, XM_017009826.2:c.647G>A, XM_017009826.1:c.647G>A, NR_125351.2:n.992G>A, NR_125351.1:n.1133G>A, NM_001300938.2:c.989G>A, NM_001300938.1:c.989G>A, XM_047417692.1:c.647G>A, XM_047417693.1:c.647G>A, NM_031933.1:c.935G>A, NP_490645.1:p.Cys312Tyr, NP_001287868.1:p.Cys330Tyr, XP_016865315.1:p.Cys216Tyr, NP_001287867.1:p.Cys330Tyr, XP_047273648.1:p.Cys216Tyr, XP_047273649.1:p.Cys216Tyr

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