SNP Links for Protein (Select 964749696) - SNP

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Links from Protein

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Select item 14814346171.

rs1481434617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:1042669 (GRCh38)
10:1088609 (GRCh37)
Canonical SPDI:: NC_000010.11:1042668:C:T
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.1042669C>T, NC_000010.10:g.1088609C>T, NM_004508.4:c.500G>A, NM_004508.3:c.500G>A, NM_004508.2:c.500G>A, XM_017016191.3:c.293G>A, XM_017016191.2:c.293G>A, XM_017016191.1:c.293G>A, NM_001317956.2:c.332G>A, NM_001317956.1:c.332G>A, NM_001317955.2:c.332G>A, NM_001317955.1:c.332G>A, NM_001317957.2:c.242G>A, NM_001317957.1:c.242G>A, XM_024447979.2:c.221G>A, XM_024447979.1:c.221G>A, NR_134300.2:n.583G>A, NR_134300.1:n.595G>A, XM_024447980.2:c.209G>A, XM_024447980.1:c.209G>A, XM_047425176.1:c.332G>A, NR_134301.1:n.690G>A, NP_004499.2:p.Arg167Lys, XP_016871680.1:p.Arg98Lys, NP_001304885.1:p.Arg111Lys, NP_001304884.1:p.Arg111Lys, NP_001304886.1:p.Arg81Lys, XP_024303747.1:p.Arg74Lys, XP_024303748.1:p.Arg70Lys, XP_047281132.1:p.Arg111Lys

Select item 14813038572.

rs1481303857 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:1041333 (GRCh38)
10:1087273 (GRCh37)
Canonical SPDI:: NC_000010.11:1041332:T:C
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.1041333T>C, NC_000010.10:g.1087273T>C, NM_004508.4:c.709A>G, NM_004508.3:c.709A>G, NM_004508.2:c.709A>G, XM_017016191.3:c.502A>G, XM_017016191.2:c.502A>G, XM_017016191.1:c.502A>G, NM_001317956.2:c.541A>G, NM_001317956.1:c.541A>G, NM_001317955.2:c.541A>G, NM_001317955.1:c.541A>G, NM_001317957.2:c.451A>G, NM_001317957.1:c.451A>G, XM_024447979.2:c.430A>G, XM_024447979.1:c.430A>G, NR_134300.2:n.792A>G, NR_134300.1:n.804A>G, XM_024447980.2:c.418A>G, XM_024447980.1:c.418A>G, XM_047425176.1:c.541A>G, NR_134301.1:n.899A>G, NP_004499.2:p.Lys237Glu, XP_016871680.1:p.Lys168Glu, NP_001304885.1:p.Lys181Glu, NP_001304884.1:p.Lys181Glu, NP_001304886.1:p.Lys151Glu, XP_024303747.1:p.Lys144Glu, XP_024303748.1:p.Lys140Glu, XP_047281132.1:p.Lys181Glu

Select item 14794263243.

rs1479426324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:1044074 (GRCh38)
10:1090014 (GRCh37)
Canonical SPDI:: NC_000010.11:1044073:G:C
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.1044074G>C, NC_000010.10:g.1090014G>C, NM_004508.4:c.238C>G, NM_004508.3:c.238C>G, NM_004508.2:c.238C>G, NM_001317956.2:c.70C>G, NM_001317956.1:c.70C>G, NM_001317955.2:c.70C>G, NM_001317955.1:c.70C>G, XM_047425176.1:c.70C>G, NR_027709.1:n.1178G>C, NR_027708.1:n.1094G>C, NR_024628.1:n.961G>C, NR_024629.1:n.798G>C, NM_018470.1:c.*50G>C, NP_004499.2:p.Leu80Val, NP_001304885.1:p.Leu24Val, NP_001304884.1:p.Leu24Val, XP_047281132.1:p.Leu24Val

Select item 14772104964.

rs1477210496 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:1041198 (GRCh38)
10:1087138 (GRCh37)
Canonical SPDI:: NC_000010.11:1041197:A:G
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000342/1 (KOREAN)
HGVS:: NC_000010.11:g.1041198A>G, NC_000010.10:g.1087138A>G, NM_004508.4:c.844T>C, NM_004508.3:c.844T>C, NM_004508.2:c.844T>C, XM_017016191.3:c.637T>C, XM_017016191.2:c.637T>C, XM_017016191.1:c.637T>C, NM_001317956.2:c.676T>C, NM_001317956.1:c.676T>C, NM_001317955.2:c.676T>C, NM_001317955.1:c.676T>C, NM_001317957.2:c.586T>C, NM_001317957.1:c.586T>C, XM_024447979.2:c.565T>C, XM_024447979.1:c.565T>C, NR_134300.2:n.927T>C, NR_134300.1:n.939T>C, XM_024447980.2:c.553T>C, XM_024447980.1:c.553T>C, XM_047425176.1:c.676T>C, NR_134301.1:n.1034T>C, NP_004499.2:p.Tyr282His, XP_016871680.1:p.Tyr213His, NP_001304885.1:p.Tyr226His, NP_001304884.1:p.Tyr226His, NP_001304886.1:p.Tyr196His, XP_024303747.1:p.Tyr189His, XP_024303748.1:p.Tyr185His, XP_047281132.1:p.Tyr226His

Select item 14769096005.

rs1476909600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:1041206 (GRCh38)
10:1087146 (GRCh37)
Canonical SPDI:: NC_000010.11:1041205:T:G
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.1041206T>G, NC_000010.10:g.1087146T>G, NM_004508.4:c.836A>C, NM_004508.3:c.836A>C, NM_004508.2:c.836A>C, XM_017016191.3:c.629A>C, XM_017016191.2:c.629A>C, XM_017016191.1:c.629A>C, NM_001317956.2:c.668A>C, NM_001317956.1:c.668A>C, NM_001317955.2:c.668A>C, NM_001317955.1:c.668A>C, NM_001317957.2:c.578A>C, NM_001317957.1:c.578A>C, XM_024447979.2:c.557A>C, XM_024447979.1:c.557A>C, NR_134300.2:n.919A>C, NR_134300.1:n.931A>C, XM_024447980.2:c.545A>C, XM_024447980.1:c.545A>C, XM_047425176.1:c.668A>C, NR_134301.1:n.1026A>C, NP_004499.2:p.Glu279Ala, XP_016871680.1:p.Glu210Ala, NP_001304885.1:p.Glu223Ala, NP_001304884.1:p.Glu223Ala, NP_001304886.1:p.Glu193Ala, XP_024303747.1:p.Glu186Ala, XP_024303748.1:p.Glu182Ala, XP_047281132.1:p.Glu223Ala

Select item 14764246436.

rs1476424643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:1043326 (GRCh38)
10:1089266 (GRCh37)
Canonical SPDI:: NC_000010.11:1043325:T:A
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_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_000010.11:g.1043326T>A, NC_000010.10:g.1089266T>A, NM_004508.4:c.381A>T, NM_004508.3:c.381A>T, NM_004508.2:c.381A>T, XM_017016191.3:c.174A>T, XM_017016191.2:c.174A>T, XM_017016191.1:c.174A>T, NM_001317956.2:c.213A>T, NM_001317956.1:c.213A>T, NM_001317955.2:c.213A>T, NM_001317955.1:c.213A>T, NM_001317957.2:c.123A>T, NM_001317957.1:c.123A>T, XM_024447979.2:c.102A>T, XM_024447979.1:c.102A>T, NR_134300.2:n.464A>T, NR_134300.1:n.476A>T, XM_024447980.2:c.90A>T, XM_024447980.1:c.90A>T, XM_047425176.1:c.213A>T, NR_134301.1:n.571A>T, NP_004499.2:p.Arg127Ser, XP_016871680.1:p.Arg58Ser, NP_001304885.1:p.Arg71Ser, NP_001304884.1:p.Arg71Ser, NP_001304886.1:p.Arg41Ser, XP_024303747.1:p.Arg34Ser, XP_024303748.1:p.Arg30Ser, XP_047281132.1:p.Arg71Ser

Select item 14710481607.

rs1471048160 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:1041389 (GRCh38)
10:1087329 (GRCh37)
Canonical SPDI:: NC_000010.11:1041388:A:C
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.1041389A>C, NC_000010.10:g.1087329A>C, NM_004508.4:c.653T>G, NM_004508.3:c.653T>G, NM_004508.2:c.653T>G, XM_017016191.3:c.446T>G, XM_017016191.2:c.446T>G, XM_017016191.1:c.446T>G, NM_001317956.2:c.485T>G, NM_001317956.1:c.485T>G, NM_001317955.2:c.485T>G, NM_001317955.1:c.485T>G, NM_001317957.2:c.395T>G, NM_001317957.1:c.395T>G, XM_024447979.2:c.374T>G, XM_024447979.1:c.374T>G, NR_134300.2:n.736T>G, NR_134300.1:n.748T>G, XM_024447980.2:c.362T>G, XM_024447980.1:c.362T>G, XM_047425176.1:c.485T>G, NR_134301.1:n.843T>G, NP_004499.2:p.Leu218Trp, XP_016871680.1:p.Leu149Trp, NP_001304885.1:p.Leu162Trp, NP_001304884.1:p.Leu162Trp, NP_001304886.1:p.Leu132Trp, XP_024303747.1:p.Leu125Trp, XP_024303748.1:p.Leu121Trp, XP_047281132.1:p.Leu162Trp

Select item 14702187078.

rs1470218707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:1044050 (GRCh38)
10:1089990 (GRCh37)
Canonical SPDI:: NC_000010.11:1044049:T:C
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.1044050T>C, NC_000010.10:g.1089990T>C, NM_004508.4:c.262A>G, NM_004508.3:c.262A>G, NM_004508.2:c.262A>G, NM_001317956.2:c.94A>G, NM_001317956.1:c.94A>G, NM_001317955.2:c.94A>G, NM_001317955.1:c.94A>G, XM_047425176.1:c.94A>G, NR_027709.1:n.1154T>C, NR_027708.1:n.1070T>C, NR_024628.1:n.937T>C, NR_024629.1:n.774T>C, NM_018470.1:c.*26T>C, NP_004499.2:p.Ile88Val, NP_001304885.1:p.Ile32Val, NP_001304884.1:p.Ile32Val, XP_047281132.1:p.Ile32Val

Select item 14662212579.

rs1466221257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:1042696 (GRCh38)
10:1088636 (GRCh37)
Canonical SPDI:: NC_000010.11:1042695:G:A,NC_000010.11:1042695:G:T
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_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)
HGVS:: NC_000010.11:g.1042696G>A, NC_000010.11:g.1042696G>T, NC_000010.10:g.1088636G>A, NC_000010.10:g.1088636G>T, NM_004508.4:c.473C>T, NM_004508.4:c.473C>A, NM_004508.3:c.473C>T, NM_004508.3:c.473C>A, NM_004508.2:c.473C>T, NM_004508.2:c.473C>A, XM_017016191.3:c.266C>T, XM_017016191.3:c.266C>A, XM_017016191.2:c.266C>T, XM_017016191.2:c.266C>A, XM_017016191.1:c.266C>T, XM_017016191.1:c.266C>A, NM_001317956.2:c.305C>T, NM_001317956.2:c.305C>A, NM_001317956.1:c.305C>T, NM_001317956.1:c.305C>A, NM_001317955.2:c.305C>T, NM_001317955.2:c.305C>A, NM_001317955.1:c.305C>T, NM_001317955.1:c.305C>A, NM_001317957.2:c.215C>T, NM_001317957.2:c.215C>A, NM_001317957.1:c.215C>T, NM_001317957.1:c.215C>A, XM_024447979.2:c.194C>T, XM_024447979.2:c.194C>A, XM_024447979.1:c.194C>T, XM_024447979.1:c.194C>A, NR_134300.2:n.556C>T, NR_134300.2:n.556C>A, NR_134300.1:n.568C>T, NR_134300.1:n.568C>A, XM_024447980.2:c.182C>T, XM_024447980.2:c.182C>A, XM_024447980.1:c.182C>T, XM_024447980.1:c.182C>A, XM_047425176.1:c.305C>T, XM_047425176.1:c.305C>A, NR_134301.1:n.663C>T, NR_134301.1:n.663C>A, NP_004499.2:p.Ala158Val, NP_004499.2:p.Ala158Asp, XP_016871680.1:p.Ala89Val, XP_016871680.1:p.Ala89Asp, NP_001304885.1:p.Ala102Val, NP_001304885.1:p.Ala102Asp, NP_001304884.1:p.Ala102Val, NP_001304884.1:p.Ala102Asp, NP_001304886.1:p.Ala72Val, NP_001304886.1:p.Ala72Asp, XP_024303747.1:p.Ala65Val, XP_024303747.1:p.Ala65Asp, XP_024303748.1:p.Ala61Val, XP_024303748.1:p.Ala61Asp, XP_047281132.1:p.Ala102Val, XP_047281132.1:p.Ala102Asp

Select item 146460197510.

rs1464601975 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:1041330 (GRCh38)
10:1087270 (GRCh37)
Canonical SPDI:: NC_000010.11:1041329:C:G
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.1041330C>G, NC_000010.10:g.1087270C>G, NM_004508.4:c.712G>C, NM_004508.3:c.712G>C, NM_004508.2:c.712G>C, XM_017016191.3:c.505G>C, XM_017016191.2:c.505G>C, XM_017016191.1:c.505G>C, NM_001317956.2:c.544G>C, NM_001317956.1:c.544G>C, NM_001317955.2:c.544G>C, NM_001317955.1:c.544G>C, NM_001317957.2:c.454G>C, NM_001317957.1:c.454G>C, XM_024447979.2:c.433G>C, XM_024447979.1:c.433G>C, NR_134300.2:n.795G>C, NR_134300.1:n.807G>C, XM_024447980.2:c.421G>C, XM_024447980.1:c.421G>C, XM_047425176.1:c.544G>C, NR_134301.1:n.902G>C, NP_004499.2:p.Glu238Gln, XP_016871680.1:p.Glu169Gln, NP_001304885.1:p.Glu182Gln, NP_001304884.1:p.Glu182Gln, NP_001304886.1:p.Glu152Gln, XP_024303747.1:p.Glu145Gln, XP_024303748.1:p.Glu141Gln, XP_047281132.1:p.Glu182Gln

Select item 146040836611.

rs1460408366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:1042641 (GRCh38)
10:1088581 (GRCh37)
Canonical SPDI:: NC_000010.11:1042640:G:C
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.1042641G>C, NC_000010.10:g.1088581G>C, NM_004508.4:c.528C>G, NM_004508.3:c.528C>G, NM_004508.2:c.528C>G, XM_017016191.3:c.321C>G, XM_017016191.2:c.321C>G, XM_017016191.1:c.321C>G, NM_001317956.2:c.360C>G, NM_001317956.1:c.360C>G, NM_001317955.2:c.360C>G, NM_001317955.1:c.360C>G, NM_001317957.2:c.270C>G, NM_001317957.1:c.270C>G, XM_024447979.2:c.249C>G, XM_024447979.1:c.249C>G, NR_134300.2:n.611C>G, NR_134300.1:n.623C>G, XM_024447980.2:c.237C>G, XM_024447980.1:c.237C>G, XM_047425176.1:c.360C>G, NR_134301.1:n.718C>G

Select item 145916929912.

rs1459169299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:1043378 (GRCh38)
10:1089318 (GRCh37)
Canonical SPDI:: NC_000010.11:1043377:G:C
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.1043378G>C, NC_000010.10:g.1089318G>C, NM_004508.4:c.329C>G, NM_004508.3:c.329C>G, NM_004508.2:c.329C>G, XM_017016191.3:c.122C>G, XM_017016191.2:c.122C>G, XM_017016191.1:c.122C>G, NM_001317956.2:c.161C>G, NM_001317956.1:c.161C>G, NM_001317955.2:c.161C>G, NM_001317955.1:c.161C>G, NM_001317957.2:c.71C>G, NM_001317957.1:c.71C>G, XM_024447979.2:c.50C>G, XM_024447979.1:c.50C>G, NR_134300.2:n.412C>G, NR_134300.1:n.424C>G, XM_024447980.2:c.38C>G, XM_024447980.1:c.38C>G, XM_047425176.1:c.161C>G, NR_134301.1:n.519C>G, NP_004499.2:p.Ala110Gly, XP_016871680.1:p.Ala41Gly, NP_001304885.1:p.Ala54Gly, NP_001304884.1:p.Ala54Gly, NP_001304886.1:p.Ala24Gly, XP_024303747.1:p.Ala17Gly, XP_024303748.1:p.Ala13Gly, XP_047281132.1:p.Ala54Gly

Select item 145697020313.

rs1456970203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:1041453 (GRCh38)
10:1087393 (GRCh37)
Canonical SPDI:: NC_000010.11:1041452:A:T
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.1041453A>T, NC_000010.10:g.1087393A>T, NM_004508.4:c.589T>A, NM_004508.3:c.589T>A, NM_004508.2:c.589T>A, XM_017016191.3:c.382T>A, XM_017016191.2:c.382T>A, XM_017016191.1:c.382T>A, NM_001317956.2:c.421T>A, NM_001317956.1:c.421T>A, NM_001317955.2:c.421T>A, NM_001317955.1:c.421T>A, NM_001317957.2:c.331T>A, NM_001317957.1:c.331T>A, XM_024447979.2:c.310T>A, XM_024447979.1:c.310T>A, NR_134300.2:n.672T>A, NR_134300.1:n.684T>A, XM_024447980.2:c.298T>A, XM_024447980.1:c.298T>A, XM_047425176.1:c.421T>A, NR_134301.1:n.779T>A, NP_004499.2:p.Ser197Thr, XP_016871680.1:p.Ser128Thr, NP_001304885.1:p.Ser141Thr, NP_001304884.1:p.Ser141Thr, NP_001304886.1:p.Ser111Thr, XP_024303747.1:p.Ser104Thr, XP_024303748.1:p.Ser100Thr, XP_047281132.1:p.Ser141Thr

Select item 145641756114.

rs1456417561 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:1041426 (GRCh38)
10:1087366 (GRCh37)
Canonical SPDI:: NC_000010.11:1041425:T:G
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.1041426T>G, NC_000010.10:g.1087366T>G, NM_004508.4:c.616A>C, NM_004508.3:c.616A>C, NM_004508.2:c.616A>C, XM_017016191.3:c.409A>C, XM_017016191.2:c.409A>C, XM_017016191.1:c.409A>C, NM_001317956.2:c.448A>C, NM_001317956.1:c.448A>C, NM_001317955.2:c.448A>C, NM_001317955.1:c.448A>C, NM_001317957.2:c.358A>C, NM_001317957.1:c.358A>C, XM_024447979.2:c.337A>C, XM_024447979.1:c.337A>C, NR_134300.2:n.699A>C, NR_134300.1:n.711A>C, XM_024447980.2:c.325A>C, XM_024447980.1:c.325A>C, XM_047425176.1:c.448A>C, NR_134301.1:n.806A>C, NP_004499.2:p.Ile206Leu, XP_016871680.1:p.Ile137Leu, NP_001304885.1:p.Ile150Leu, NP_001304884.1:p.Ile150Leu, NP_001304886.1:p.Ile120Leu, XP_024303747.1:p.Ile113Leu, XP_024303748.1:p.Ile109Leu, XP_047281132.1:p.Ile150Leu

Select item 145606624415.

rs1456066244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:1042662 (GRCh38)
10:1088602 (GRCh37)
Canonical SPDI:: NC_000010.11:1042661:C:T
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.1042662C>T, NC_000010.10:g.1088602C>T, NM_004508.4:c.507G>A, NM_004508.3:c.507G>A, NM_004508.2:c.507G>A, XM_017016191.3:c.300G>A, XM_017016191.2:c.300G>A, XM_017016191.1:c.300G>A, NM_001317956.2:c.339G>A, NM_001317956.1:c.339G>A, NM_001317955.2:c.339G>A, NM_001317955.1:c.339G>A, NM_001317957.2:c.249G>A, NM_001317957.1:c.249G>A, XM_024447979.2:c.228G>A, XM_024447979.1:c.228G>A, NR_134300.2:n.590G>A, NR_134300.1:n.602G>A, XM_024447980.2:c.216G>A, XM_024447980.1:c.216G>A, XM_047425176.1:c.339G>A, NR_134301.1:n.697G>A

Select item 145472578116.

rs1454725781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:1043999 (GRCh38)
10:1089939 (GRCh37)
Canonical SPDI:: NC_000010.11:1043998:C:T
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000071/2 (TOMMO)
HGVS:: NC_000010.11:g.1043999C>T, NC_000010.10:g.1089939C>T, NM_004508.4:c.313G>A, NM_004508.3:c.313G>A, NM_004508.2:c.313G>A, NM_001317956.2:c.145G>A, NM_001317956.1:c.145G>A, NM_001317955.2:c.145G>A, NM_001317955.1:c.145G>A, XM_047425176.1:c.145G>A, NR_027709.1:n.1103C>T, NR_027708.1:n.1019C>T, NR_024628.1:n.886C>T, NR_024629.1:n.723C>T, NM_018470.1:c.542C>T, NP_004499.2:p.Gly105Arg, NP_001304885.1:p.Gly49Arg, NP_001304884.1:p.Gly49Arg, XP_047281132.1:p.Gly49Arg

Select item 144519047817.

rs1445190478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:1041497 (GRCh38)
10:1087437 (GRCh37)
Canonical SPDI:: NC_000010.11:1041496:G:A
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_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_000010.11:g.1041497G>A, NC_000010.10:g.1087437G>A, NM_004508.4:c.545C>T, NM_004508.3:c.545C>T, NM_004508.2:c.545C>T, XM_017016191.3:c.338C>T, XM_017016191.2:c.338C>T, XM_017016191.1:c.338C>T, NM_001317956.2:c.377C>T, NM_001317956.1:c.377C>T, NM_001317955.2:c.377C>T, NM_001317955.1:c.377C>T, NM_001317957.2:c.287C>T, NM_001317957.1:c.287C>T, XM_024447979.2:c.266C>T, XM_024447979.1:c.266C>T, NR_134300.2:n.628C>T, NR_134300.1:n.640C>T, XM_024447980.2:c.254C>T, XM_024447980.1:c.254C>T, XM_047425176.1:c.377C>T, NR_134301.1:n.735C>T, NP_004499.2:p.Pro182Leu, XP_016871680.1:p.Pro113Leu, NP_001304885.1:p.Pro126Leu, NP_001304884.1:p.Pro126Leu, NP_001304886.1:p.Pro96Leu, XP_024303747.1:p.Pro89Leu, XP_024303748.1:p.Pro85Leu, XP_047281132.1:p.Pro126Leu

Select item 144512698218.

rs1445126982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:1043370 (GRCh38)
10:1089310 (GRCh37)
Canonical SPDI:: NC_000010.11:1043369:C:T
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.1043370C>T, NC_000010.10:g.1089310C>T, NM_004508.4:c.337G>A, NM_004508.3:c.337G>A, NM_004508.2:c.337G>A, XM_017016191.3:c.130G>A, XM_017016191.2:c.130G>A, XM_017016191.1:c.130G>A, NM_001317956.2:c.169G>A, NM_001317956.1:c.169G>A, NM_001317955.2:c.169G>A, NM_001317955.1:c.169G>A, NM_001317957.2:c.79G>A, NM_001317957.1:c.79G>A, XM_024447979.2:c.58G>A, XM_024447979.1:c.58G>A, NR_134300.2:n.420G>A, NR_134300.1:n.432G>A, XM_024447980.2:c.46G>A, XM_024447980.1:c.46G>A, XM_047425176.1:c.169G>A, NR_134301.1:n.527G>A, NP_004499.2:p.Val113Ile, XP_016871680.1:p.Val44Ile, NP_001304885.1:p.Val57Ile, NP_001304884.1:p.Val57Ile, NP_001304886.1:p.Val27Ile, XP_024303747.1:p.Val20Ile, XP_024303748.1:p.Val16Ile, XP_047281132.1:p.Val57Ile

Select item 144489592019.

rs1444895920 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:1041302 (GRCh38)
10:1087242 (GRCh37)
Canonical SPDI:: NC_000010.11:1041301:T:G
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.1041302T>G, NC_000010.10:g.1087242T>G, NM_004508.4:c.740A>C, NM_004508.3:c.740A>C, NM_004508.2:c.740A>C, XM_017016191.3:c.533A>C, XM_017016191.2:c.533A>C, XM_017016191.1:c.533A>C, NM_001317956.2:c.572A>C, NM_001317956.1:c.572A>C, NM_001317955.2:c.572A>C, NM_001317955.1:c.572A>C, NM_001317957.2:c.482A>C, NM_001317957.1:c.482A>C, XM_024447979.2:c.461A>C, XM_024447979.1:c.461A>C, NR_134300.2:n.823A>C, NR_134300.1:n.835A>C, XM_024447980.2:c.449A>C, XM_024447980.1:c.449A>C, XM_047425176.1:c.572A>C, NR_134301.1:n.930A>C, NP_004499.2:p.Glu247Ala, XP_016871680.1:p.Glu178Ala, NP_001304885.1:p.Glu191Ala, NP_001304884.1:p.Glu191Ala, NP_001304886.1:p.Glu161Ala, XP_024303747.1:p.Glu154Ala, XP_024303748.1:p.Glu150Ala, XP_047281132.1:p.Glu191Ala

Select item 143917526220.

rs1439175262 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:1041192 (GRCh38)
10:1087132 (GRCh37)
Canonical SPDI:: NC_000010.11:1041191:T:C,NC_000010.11:1041191:T:G
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.1041192T>C, NC_000010.11:g.1041192T>G, NC_000010.10:g.1087132T>C, NC_000010.10:g.1087132T>G, NM_004508.4:c.850A>G, NM_004508.4:c.850A>C, NM_004508.3:c.850A>G, NM_004508.3:c.850A>C, NM_004508.2:c.850A>G, NM_004508.2:c.850A>C, XM_017016191.3:c.643A>G, XM_017016191.3:c.643A>C, XM_017016191.2:c.643A>G, XM_017016191.2:c.643A>C, XM_017016191.1:c.643A>G, XM_017016191.1:c.643A>C, NM_001317956.2:c.682A>G, NM_001317956.2:c.682A>C, NM_001317956.1:c.682A>G, NM_001317956.1:c.682A>C, NM_001317955.2:c.682A>G, NM_001317955.2:c.682A>C, NM_001317955.1:c.682A>G, NM_001317955.1:c.682A>C, NM_001317957.2:c.592A>G, NM_001317957.2:c.592A>C, NM_001317957.1:c.592A>G, NM_001317957.1:c.592A>C, XM_024447979.2:c.571A>G, XM_024447979.2:c.571A>C, XM_024447979.1:c.571A>G, XM_024447979.1:c.571A>C, NR_134300.2:n.933A>G, NR_134300.2:n.933A>C, NR_134300.1:n.945A>G, NR_134300.1:n.945A>C, XM_024447980.2:c.559A>G, XM_024447980.2:c.559A>C, XM_024447980.1:c.559A>G, XM_024447980.1:c.559A>C, XM_047425176.1:c.682A>G, XM_047425176.1:c.682A>C, NR_134301.1:n.1040A>G, NR_134301.1:n.1040A>C, NP_004499.2:p.Met284Val, NP_004499.2:p.Met284Leu, XP_016871680.1:p.Met215Val, XP_016871680.1:p.Met215Leu, NP_001304885.1:p.Met228Val, NP_001304885.1:p.Met228Leu, NP_001304884.1:p.Met228Val, NP_001304884.1:p.Met228Leu, NP_001304886.1:p.Met198Val, NP_001304886.1:p.Met198Leu, XP_024303747.1:p.Met191Val, XP_024303747.1:p.Met191Leu, XP_024303748.1:p.Met187Val, XP_024303748.1:p.Met187Leu, XP_047281132.1:p.Met228Val, XP_047281132.1:p.Met228Leu

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