SNP Links for Protein (Select 345090974) - SNP

Links from Protein

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Select item 14865844551.

rs1486584455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:2433279 (GRCh38)
7:2472914 (GRCh37)
Canonical SPDI:: NC_000007.14:2433278:C:G
Gene:: CHST12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.2433279C>G, NC_000007.13:g.2472914C>G, NG_029854.1:g.34720C>G, NM_018641.4:c.640C>G, NM_018641.5:c.640C>G, NM_001243795.1:c.640C>G, NM_001243795.2:c.640C>G, NM_001243794.1:c.640C>G, NM_001243794.2:c.640C>G, XM_011515443.3:c.640C>G, XM_011515443.2:c.640C>G, XM_011515443.1:c.640C>G, XM_011515444.3:c.640C>G, XM_011515444.2:c.640C>G, XM_011515444.1:c.640C>G, XR_007060066.1:n.752C>G, XR_007060070.1:n.742C>G, XR_007060069.1:n.752C>G, XR_007060073.1:n.752C>G, XR_007060067.1:n.752C>G, XR_007060068.1:n.752C>G, XR_007060065.1:n.717C>G, XR_007060074.1:n.752C>G, XR_007060072.1:n.752C>G, XR_007060071.1:n.752C>G, XM_047420571.1:c.787C>G, NP_061111.1:p.Leu214Val, NP_001230724.1:p.Leu214Val, NP_001230723.1:p.Leu214Val, XP_011513745.1:p.Leu214Val, XP_011513746.1:p.Leu214Val, XP_047276527.1:p.Leu263Val

Select item 14864228632.

rs1486422863 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:2433403 (GRCh38)
7:2473038 (GRCh37)
Canonical SPDI:: NC_000007.14:2433402:T:C
Gene:: CHST12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.2433403T>C, NC_000007.13:g.2473038T>C, NG_029854.1:g.34844T>C, NM_018641.4:c.764T>C, NM_018641.5:c.764T>C, NM_001243795.1:c.764T>C, NM_001243795.2:c.764T>C, NM_001243794.1:c.764T>C, NM_001243794.2:c.764T>C, XM_011515443.3:c.764T>C, XM_011515443.2:c.764T>C, XM_011515443.1:c.764T>C, XM_011515444.3:c.764T>C, XM_011515444.2:c.764T>C, XM_011515444.1:c.764T>C, XR_007060066.1:n.876T>C, XR_007060070.1:n.866T>C, XR_007060069.1:n.876T>C, XR_007060073.1:n.876T>C, XR_007060067.1:n.876T>C, XR_007060068.1:n.876T>C, XR_007060065.1:n.841T>C, XR_007060074.1:n.876T>C, XR_007060072.1:n.876T>C, XR_007060071.1:n.876T>C, XM_047420571.1:c.911T>C, NP_061111.1:p.Phe255Ser, NP_001230724.1:p.Phe255Ser, NP_001230723.1:p.Phe255Ser, XP_011513745.1:p.Phe255Ser, XP_011513746.1:p.Phe255Ser, XP_047276527.1:p.Phe304Ser

Select item 14863264553.

rs1486326455 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:2433505 (GRCh38)
7:2473140 (GRCh37)
Canonical SPDI:: NC_000007.14:2433504:G:A
Gene:: CHST12 (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=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.2433505G>A, NC_000007.13:g.2473140G>A, NG_029854.1:g.34946G>A, NM_018641.4:c.866G>A, NM_018641.5:c.866G>A, NM_001243795.1:c.866G>A, NM_001243795.2:c.866G>A, NM_001243794.1:c.866G>A, NM_001243794.2:c.866G>A, XM_011515443.3:c.866G>A, XM_011515443.2:c.866G>A, XM_011515443.1:c.866G>A, XM_011515444.3:c.866G>A, XM_011515444.2:c.866G>A, XM_011515444.1:c.866G>A, XR_007060066.1:n.978G>A, XR_007060070.1:n.968G>A, XR_007060069.1:n.978G>A, XR_007060073.1:n.978G>A, XR_007060067.1:n.978G>A, XR_007060068.1:n.978G>A, XR_007060065.1:n.943G>A, XR_007060074.1:n.978G>A, XR_007060072.1:n.978G>A, XR_007060071.1:n.978G>A, XM_047420571.1:c.1013G>A, NP_061111.1:p.Arg289His, NP_001230724.1:p.Arg289His, NP_001230723.1:p.Arg289His, XP_011513745.1:p.Arg289His, XP_011513746.1:p.Arg289His, XP_047276527.1:p.Arg338His

Select item 14834000584.

rs1483400058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:2432885 (GRCh38)
7:2472520 (GRCh37)
Canonical SPDI:: NC_000007.14:2432884:C:T
Gene:: CHST12 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2432885C>T, NC_000007.13:g.2472520C>T, NG_029854.1:g.34326C>T, NM_018641.4:c.246C>T, NM_018641.5:c.246C>T, NM_001243795.1:c.246C>T, NM_001243795.2:c.246C>T, NM_001243794.1:c.246C>T, NM_001243794.2:c.246C>T, XM_011515443.3:c.246C>T, XM_011515443.2:c.246C>T, XM_011515443.1:c.246C>T, XM_011515444.3:c.246C>T, XM_011515444.2:c.246C>T, XM_011515444.1:c.246C>T, XR_007060066.1:n.358C>T, XR_007060070.1:n.348C>T, XR_007060069.1:n.358C>T, XR_007060073.1:n.358C>T, XR_007060067.1:n.358C>T, XR_007060068.1:n.358C>T, XR_007060065.1:n.323C>T, XR_007060074.1:n.358C>T, XR_007060072.1:n.358C>T, XR_007060071.1:n.358C>T, XM_047420571.1:c.393C>T

Select item 14832029535.

rs1483202953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:2433465 (GRCh38)
7:2473100 (GRCh37)
Canonical SPDI:: NC_000007.14:2433464:C:T
Gene:: CHST12 (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=0.000012/3 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000007.14:g.2433465C>T, NC_000007.13:g.2473100C>T, NG_029854.1:g.34906C>T, NM_018641.4:c.826C>T, NM_018641.5:c.826C>T, NM_001243795.1:c.826C>T, NM_001243795.2:c.826C>T, NM_001243794.1:c.826C>T, NM_001243794.2:c.826C>T, XM_011515443.3:c.826C>T, XM_011515443.2:c.826C>T, XM_011515443.1:c.826C>T, XM_011515444.3:c.826C>T, XM_011515444.2:c.826C>T, XM_011515444.1:c.826C>T, XR_007060066.1:n.938C>T, XR_007060070.1:n.928C>T, XR_007060069.1:n.938C>T, XR_007060073.1:n.938C>T, XR_007060067.1:n.938C>T, XR_007060068.1:n.938C>T, XR_007060065.1:n.903C>T, XR_007060074.1:n.938C>T, XR_007060072.1:n.938C>T, XR_007060071.1:n.938C>T, XM_047420571.1:c.973C>T, NP_061111.1:p.Arg276Trp, NP_001230724.1:p.Arg276Trp, NP_001230723.1:p.Arg276Trp, XP_011513745.1:p.Arg276Trp, XP_011513746.1:p.Arg276Trp, XP_047276527.1:p.Arg325Trp

Select item 14817618976.

rs1481761897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:2433083 (GRCh38)
7:2472718 (GRCh37)
Canonical SPDI:: NC_000007.14:2433082:C:T
Gene:: CHST12 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2433083C>T, NC_000007.13:g.2472718C>T, NG_029854.1:g.34524C>T, NM_018641.4:c.444C>T, NM_018641.5:c.444C>T, NM_001243795.1:c.444C>T, NM_001243795.2:c.444C>T, NM_001243794.1:c.444C>T, NM_001243794.2:c.444C>T, XM_011515443.3:c.444C>T, XM_011515443.2:c.444C>T, XM_011515443.1:c.444C>T, XM_011515444.3:c.444C>T, XM_011515444.2:c.444C>T, XM_011515444.1:c.444C>T, XR_007060066.1:n.556C>T, XR_007060070.1:n.546C>T, XR_007060069.1:n.556C>T, XR_007060073.1:n.556C>T, XR_007060067.1:n.556C>T, XR_007060068.1:n.556C>T, XR_007060065.1:n.521C>T, XR_007060074.1:n.556C>T, XR_007060072.1:n.556C>T, XR_007060071.1:n.556C>T, XM_047420571.1:c.591C>T

Select item 14781603217.

rs1478160321 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:2432658 (GRCh38)
7:2472293 (GRCh37)
Canonical SPDI:: NC_000007.14:2432657:T:A
Gene:: CHST12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2432658T>A, NC_000007.13:g.2472293T>A, NG_029854.1:g.34099T>A, NM_018641.4:c.19T>A, NM_018641.5:c.19T>A, NM_001243795.1:c.19T>A, NM_001243795.2:c.19T>A, NM_001243794.1:c.19T>A, NM_001243794.2:c.19T>A, XM_011515443.3:c.19T>A, XM_011515443.2:c.19T>A, XM_011515443.1:c.19T>A, XM_011515444.3:c.19T>A, XM_011515444.2:c.19T>A, XM_011515444.1:c.19T>A, XR_007060066.1:n.131T>A, XR_007060070.1:n.121T>A, XR_007060069.1:n.131T>A, XR_007060073.1:n.131T>A, XR_007060067.1:n.131T>A, XR_007060068.1:n.131T>A, XR_007060065.1:n.96T>A, XR_007060074.1:n.131T>A, XR_007060072.1:n.131T>A, XR_007060071.1:n.131T>A, XM_047420571.1:c.166T>A, NP_061111.1:p.Phe7Ile, NP_001230724.1:p.Phe7Ile, NP_001230723.1:p.Phe7Ile, XP_011513745.1:p.Phe7Ile, XP_011513746.1:p.Phe7Ile, XP_047276527.1:p.Phe56Ile

Select item 14774865058.

rs1477486505 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:2433094 (GRCh38)
7:2472729 (GRCh37)
Canonical SPDI:: NC_000007.14:2433093:C:G,NC_000007.14:2433093:C:T
Gene:: CHST12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000035/1 (TOMMO)
T=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.2433094C>G, NC_000007.14:g.2433094C>T, NC_000007.13:g.2472729C>G, NC_000007.13:g.2472729C>T, NG_029854.1:g.34535C>G, NG_029854.1:g.34535C>T, NM_018641.4:c.455C>G, NM_018641.4:c.455C>T, NM_018641.5:c.455C>G, NM_018641.5:c.455C>T, NM_001243795.1:c.455C>G, NM_001243795.1:c.455C>T, NM_001243795.2:c.455C>G, NM_001243795.2:c.455C>T, NM_001243794.1:c.455C>G, NM_001243794.1:c.455C>T, NM_001243794.2:c.455C>G, NM_001243794.2:c.455C>T, XM_011515443.3:c.455C>G, XM_011515443.3:c.455C>T, XM_011515443.2:c.455C>G, XM_011515443.2:c.455C>T, XM_011515443.1:c.455C>G, XM_011515443.1:c.455C>T, XM_011515444.3:c.455C>G, XM_011515444.3:c.455C>T, XM_011515444.2:c.455C>G, XM_011515444.2:c.455C>T, XM_011515444.1:c.455C>G, XM_011515444.1:c.455C>T, XR_007060066.1:n.567C>G, XR_007060066.1:n.567C>T, XR_007060070.1:n.557C>G, XR_007060070.1:n.557C>T, XR_007060069.1:n.567C>G, XR_007060069.1:n.567C>T, XR_007060073.1:n.567C>G, XR_007060073.1:n.567C>T, XR_007060067.1:n.567C>G, XR_007060067.1:n.567C>T, XR_007060068.1:n.567C>G, XR_007060068.1:n.567C>T, XR_007060065.1:n.532C>G, XR_007060065.1:n.532C>T, XR_007060074.1:n.567C>G, XR_007060074.1:n.567C>T, XR_007060072.1:n.567C>G, XR_007060072.1:n.567C>T, XR_007060071.1:n.567C>G, XR_007060071.1:n.567C>T, XM_047420571.1:c.602C>G, XM_047420571.1:c.602C>T, NP_061111.1:p.Ser152Trp, NP_061111.1:p.Ser152Leu, NP_001230724.1:p.Ser152Trp, NP_001230724.1:p.Ser152Leu, NP_001230723.1:p.Ser152Trp, NP_001230723.1:p.Ser152Leu, XP_011513745.1:p.Ser152Trp, XP_011513745.1:p.Ser152Leu, XP_011513746.1:p.Ser152Trp, XP_011513746.1:p.Ser152Leu, XP_047276527.1:p.Ser201Trp, XP_047276527.1:p.Ser201Leu

Select item 14763551019.

rs1476355101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:2433843 (GRCh38)
7:2473478 (GRCh37)
Canonical SPDI:: NC_000007.14:2433842:C:T
Gene:: CHST12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.2433843C>T, NC_000007.13:g.2473478C>T, NG_029854.1:g.35284C>T, NM_018641.4:c.1204C>T, NM_018641.5:c.1204C>T, NM_001243795.1:c.1204C>T, NM_001243795.2:c.1204C>T, NM_001243794.1:c.1204C>T, NM_001243794.2:c.1204C>T, XM_011515443.3:c.1204C>T, XM_011515443.2:c.1204C>T, XM_011515443.1:c.1204C>T, XM_011515444.3:c.1204C>T, XM_011515444.2:c.1204C>T, XM_011515444.1:c.1204C>T, XR_007060066.1:n.1316C>T, XR_007060070.1:n.1306C>T, XR_007060069.1:n.1316C>T, XR_007060073.1:n.1316C>T, XR_007060067.1:n.1316C>T, XR_007060068.1:n.1316C>T, XR_007060065.1:n.1281C>T, XR_007060074.1:n.1316C>T, XR_007060072.1:n.1316C>T, XR_007060071.1:n.1316C>T, XM_047420571.1:c.1351C>T, NP_061111.1:p.Leu402Phe, NP_001230724.1:p.Leu402Phe, NP_001230723.1:p.Leu402Phe, XP_011513745.1:p.Leu402Phe, XP_011513746.1:p.Leu402Phe, XP_047276527.1:p.Leu451Phe

Select item 147634863410.

rs1476348634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:2433146 (GRCh38)
7:2472781 (GRCh37)
Canonical SPDI:: NC_000007.14:2433145:C:A,NC_000007.14:2433145:C:T
Gene:: CHST12 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.2433146C>A, NC_000007.14:g.2433146C>T, NC_000007.13:g.2472781C>A, NC_000007.13:g.2472781C>T, NG_029854.1:g.34587C>A, NG_029854.1:g.34587C>T, NM_018641.4:c.507C>A, NM_018641.4:c.507C>T, NM_018641.5:c.507C>A, NM_018641.5:c.507C>T, NM_001243795.1:c.507C>A, NM_001243795.1:c.507C>T, NM_001243795.2:c.507C>A, NM_001243795.2:c.507C>T, NM_001243794.1:c.507C>A, NM_001243794.1:c.507C>T, NM_001243794.2:c.507C>A, NM_001243794.2:c.507C>T, XM_011515443.3:c.507C>A, XM_011515443.3:c.507C>T, XM_011515443.2:c.507C>A, XM_011515443.2:c.507C>T, XM_011515443.1:c.507C>A, XM_011515443.1:c.507C>T, XM_011515444.3:c.507C>A, XM_011515444.3:c.507C>T, XM_011515444.2:c.507C>A, XM_011515444.2:c.507C>T, XM_011515444.1:c.507C>A, XM_011515444.1:c.507C>T, XR_007060066.1:n.619C>A, XR_007060066.1:n.619C>T, XR_007060070.1:n.609C>A, XR_007060070.1:n.609C>T, XR_007060069.1:n.619C>A, XR_007060069.1:n.619C>T, XR_007060073.1:n.619C>A, XR_007060073.1:n.619C>T, XR_007060067.1:n.619C>A, XR_007060067.1:n.619C>T, XR_007060068.1:n.619C>A, XR_007060068.1:n.619C>T, XR_007060065.1:n.584C>A, XR_007060065.1:n.584C>T, XR_007060074.1:n.619C>A, XR_007060074.1:n.619C>T, XR_007060072.1:n.619C>A, XR_007060072.1:n.619C>T, XR_007060071.1:n.619C>A, XR_007060071.1:n.619C>T, XM_047420571.1:c.654C>A, XM_047420571.1:c.654C>T, NP_061111.1:p.Tyr169Ter, NP_001230724.1:p.Tyr169Ter, NP_001230723.1:p.Tyr169Ter, XP_011513745.1:p.Tyr169Ter, XP_011513746.1:p.Tyr169Ter, XP_047276527.1:p.Tyr218Ter

Select item 147073242611.

rs1470732426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:2433758 (GRCh38)
7:2473393 (GRCh37)
Canonical SPDI:: NC_000007.14:2433757:C:T
Gene:: CHST12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2433758C>T, NC_000007.13:g.2473393C>T, NG_029854.1:g.35199C>T, NM_018641.4:c.1119C>T, NM_018641.5:c.1119C>T, NM_001243795.1:c.1119C>T, NM_001243795.2:c.1119C>T, NM_001243794.1:c.1119C>T, NM_001243794.2:c.1119C>T, XM_011515443.3:c.1119C>T, XM_011515443.2:c.1119C>T, XM_011515443.1:c.1119C>T, XM_011515444.3:c.1119C>T, XM_011515444.2:c.1119C>T, XM_011515444.1:c.1119C>T, XR_007060066.1:n.1231C>T, XR_007060070.1:n.1221C>T, XR_007060069.1:n.1231C>T, XR_007060073.1:n.1231C>T, XR_007060067.1:n.1231C>T, XR_007060068.1:n.1231C>T, XR_007060065.1:n.1196C>T, XR_007060074.1:n.1231C>T, XR_007060072.1:n.1231C>T, XR_007060071.1:n.1231C>T, XM_047420571.1:c.1266C>T

Select item 146998188112.

rs1469981881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:2433405 (GRCh38)
7:2473040 (GRCh37)
Canonical SPDI:: NC_000007.14:2433404:C:T
Gene:: CHST12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.2433405C>T, NC_000007.13:g.2473040C>T, NG_029854.1:g.34846C>T, NM_018641.4:c.766C>T, NM_018641.5:c.766C>T, NM_001243795.1:c.766C>T, NM_001243795.2:c.766C>T, NM_001243794.1:c.766C>T, NM_001243794.2:c.766C>T, XM_011515443.3:c.766C>T, XM_011515443.2:c.766C>T, XM_011515443.1:c.766C>T, XM_011515444.3:c.766C>T, XM_011515444.2:c.766C>T, XM_011515444.1:c.766C>T, XR_007060066.1:n.878C>T, XR_007060070.1:n.868C>T, XR_007060069.1:n.878C>T, XR_007060073.1:n.878C>T, XR_007060067.1:n.878C>T, XR_007060068.1:n.878C>T, XR_007060065.1:n.843C>T, XR_007060074.1:n.878C>T, XR_007060072.1:n.878C>T, XR_007060071.1:n.878C>T, XM_047420571.1:c.913C>T, NP_061111.1:p.Arg256Cys, NP_001230724.1:p.Arg256Cys, NP_001230723.1:p.Arg256Cys, XP_011513745.1:p.Arg256Cys, XP_011513746.1:p.Arg256Cys, XP_047276527.1:p.Arg305Cys

Select item 146976055313.

rs1469760553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:2432934 (GRCh38)
7:2472569 (GRCh37)
Canonical SPDI:: NC_000007.14:2432933:G:C
Gene:: CHST12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.2432934G>C, NC_000007.13:g.2472569G>C, NG_029854.1:g.34375G>C, NM_018641.4:c.295G>C, NM_018641.5:c.295G>C, NM_001243795.1:c.295G>C, NM_001243795.2:c.295G>C, NM_001243794.1:c.295G>C, NM_001243794.2:c.295G>C, XM_011515443.3:c.295G>C, XM_011515443.2:c.295G>C, XM_011515443.1:c.295G>C, XM_011515444.3:c.295G>C, XM_011515444.2:c.295G>C, XM_011515444.1:c.295G>C, XR_007060066.1:n.407G>C, XR_007060070.1:n.397G>C, XR_007060069.1:n.407G>C, XR_007060073.1:n.407G>C, XR_007060067.1:n.407G>C, XR_007060068.1:n.407G>C, XR_007060065.1:n.372G>C, XR_007060074.1:n.407G>C, XR_007060072.1:n.407G>C, XR_007060071.1:n.407G>C, XM_047420571.1:c.442G>C, NP_061111.1:p.Glu99Gln, NP_001230724.1:p.Glu99Gln, NP_001230723.1:p.Glu99Gln, XP_011513745.1:p.Glu99Gln, XP_011513746.1:p.Glu99Gln, XP_047276527.1:p.Glu148Gln

Select item 146878989314.

rs1468789893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:2433630 (GRCh38)
7:2473265 (GRCh37)
Canonical SPDI:: NC_000007.14:2433629:C:A,NC_000007.14:2433629:C:G
Gene:: CHST12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.2433630C>A, NC_000007.14:g.2433630C>G, NC_000007.13:g.2473265C>A, NC_000007.13:g.2473265C>G, NG_029854.1:g.35071C>A, NG_029854.1:g.35071C>G, NM_018641.4:c.991C>A, NM_018641.4:c.991C>G, NM_018641.5:c.991C>A, NM_018641.5:c.991C>G, NM_001243795.1:c.991C>A, NM_001243795.1:c.991C>G, NM_001243795.2:c.991C>A, NM_001243795.2:c.991C>G, NM_001243794.1:c.991C>A, NM_001243794.1:c.991C>G, NM_001243794.2:c.991C>A, NM_001243794.2:c.991C>G, XM_011515443.3:c.991C>A, XM_011515443.3:c.991C>G, XM_011515443.2:c.991C>A, XM_011515443.2:c.991C>G, XM_011515443.1:c.991C>A, XM_011515443.1:c.991C>G, XM_011515444.3:c.991C>A, XM_011515444.3:c.991C>G, XM_011515444.2:c.991C>A, XM_011515444.2:c.991C>G, XM_011515444.1:c.991C>A, XM_011515444.1:c.991C>G, XR_007060066.1:n.1103C>A, XR_007060066.1:n.1103C>G, XR_007060070.1:n.1093C>A, XR_007060070.1:n.1093C>G, XR_007060069.1:n.1103C>A, XR_007060069.1:n.1103C>G, XR_007060073.1:n.1103C>A, XR_007060073.1:n.1103C>G, XR_007060067.1:n.1103C>A, XR_007060067.1:n.1103C>G, XR_007060068.1:n.1103C>A, XR_007060068.1:n.1103C>G, XR_007060065.1:n.1068C>A, XR_007060065.1:n.1068C>G, XR_007060074.1:n.1103C>A, XR_007060074.1:n.1103C>G, XR_007060072.1:n.1103C>A, XR_007060072.1:n.1103C>G, XR_007060071.1:n.1103C>A, XR_007060071.1:n.1103C>G, XM_047420571.1:c.1138C>A, XM_047420571.1:c.1138C>G, NP_061111.1:p.Pro331Thr, NP_061111.1:p.Pro331Ala, NP_001230724.1:p.Pro331Thr, NP_001230724.1:p.Pro331Ala, NP_001230723.1:p.Pro331Thr, NP_001230723.1:p.Pro331Ala, XP_011513745.1:p.Pro331Thr, XP_011513745.1:p.Pro331Ala, XP_011513746.1:p.Pro331Thr, XP_011513746.1:p.Pro331Ala, XP_047276527.1:p.Pro380Thr, XP_047276527.1:p.Pro380Ala

Select item 146781285115.

rs1467812851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:2433560 (GRCh38)
7:2473195 (GRCh37)
Canonical SPDI:: NC_000007.14:2433559:G:T
Gene:: CHST12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2433560G>T, NC_000007.13:g.2473195G>T, NG_029854.1:g.35001G>T, NM_018641.4:c.921G>T, NM_018641.5:c.921G>T, NM_001243795.1:c.921G>T, NM_001243795.2:c.921G>T, NM_001243794.1:c.921G>T, NM_001243794.2:c.921G>T, XM_011515443.3:c.921G>T, XM_011515443.2:c.921G>T, XM_011515443.1:c.921G>T, XM_011515444.3:c.921G>T, XM_011515444.2:c.921G>T, XM_011515444.1:c.921G>T, XR_007060066.1:n.1033G>T, XR_007060070.1:n.1023G>T, XR_007060069.1:n.1033G>T, XR_007060073.1:n.1033G>T, XR_007060067.1:n.1033G>T, XR_007060068.1:n.1033G>T, XR_007060065.1:n.998G>T, XR_007060074.1:n.1033G>T, XR_007060072.1:n.1033G>T, XR_007060071.1:n.1033G>T, XM_047420571.1:c.1068G>T

Select item 146598382716.

rs1465983827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:2432767 (GRCh38)
7:2472402 (GRCh37)
Canonical SPDI:: NC_000007.14:2432766:C:T
Gene:: CHST12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000283/5 (TOMMO)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.2432767C>T, NC_000007.13:g.2472402C>T, NG_029854.1:g.34208C>T, NM_018641.4:c.128C>T, NM_018641.5:c.128C>T, NM_001243795.1:c.128C>T, NM_001243795.2:c.128C>T, NM_001243794.1:c.128C>T, NM_001243794.2:c.128C>T, XM_011515443.3:c.128C>T, XM_011515443.2:c.128C>T, XM_011515443.1:c.128C>T, XM_011515444.3:c.128C>T, XM_011515444.2:c.128C>T, XM_011515444.1:c.128C>T, XR_007060066.1:n.240C>T, XR_007060070.1:n.230C>T, XR_007060069.1:n.240C>T, XR_007060073.1:n.240C>T, XR_007060067.1:n.240C>T, XR_007060068.1:n.240C>T, XR_007060065.1:n.205C>T, XR_007060074.1:n.240C>T, XR_007060072.1:n.240C>T, XR_007060071.1:n.240C>T, XM_047420571.1:c.275C>T, NP_061111.1:p.Pro43Leu, NP_001230724.1:p.Pro43Leu, NP_001230723.1:p.Pro43Leu, XP_011513745.1:p.Pro43Leu, XP_011513746.1:p.Pro43Leu, XP_047276527.1:p.Pro92Leu

Select item 146545582917.

rs1465455829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:2433488 (GRCh38)
7:2473123 (GRCh37)
Canonical SPDI:: NC_000007.14:2433487:C:A
Gene:: CHST12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2433488C>A, NC_000007.13:g.2473123C>A, NG_029854.1:g.34929C>A, NM_018641.4:c.849C>A, NM_018641.5:c.849C>A, NM_001243795.1:c.849C>A, NM_001243795.2:c.849C>A, NM_001243794.1:c.849C>A, NM_001243794.2:c.849C>A, XM_011515443.3:c.849C>A, XM_011515443.2:c.849C>A, XM_011515443.1:c.849C>A, XM_011515444.3:c.849C>A, XM_011515444.2:c.849C>A, XM_011515444.1:c.849C>A, XR_007060066.1:n.961C>A, XR_007060070.1:n.951C>A, XR_007060069.1:n.961C>A, XR_007060073.1:n.961C>A, XR_007060067.1:n.961C>A, XR_007060068.1:n.961C>A, XR_007060065.1:n.926C>A, XR_007060074.1:n.961C>A, XR_007060072.1:n.961C>A, XR_007060071.1:n.961C>A, XM_047420571.1:c.996C>A, NP_061111.1:p.Ser283Arg, NP_001230724.1:p.Ser283Arg, NP_001230723.1:p.Ser283Arg, XP_011513745.1:p.Ser283Arg, XP_011513746.1:p.Ser283Arg, XP_047276527.1:p.Ser332Arg

Select item 146398053318.

rs1463980533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:2433020 (GRCh38)
7:2472655 (GRCh37)
Canonical SPDI:: NC_000007.14:2433019:G:A,NC_000007.14:2433019:G:T
Gene:: CHST12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000057/2 (ALFA)
T=0.000043/6 (GnomAD)
HGVS:: NC_000007.14:g.2433020G>A, NC_000007.14:g.2433020G>T, NC_000007.13:g.2472655G>A, NC_000007.13:g.2472655G>T, NG_029854.1:g.34461G>A, NG_029854.1:g.34461G>T, NM_018641.4:c.381G>A, NM_018641.4:c.381G>T, NM_018641.5:c.381G>A, NM_018641.5:c.381G>T, NM_001243795.1:c.381G>A, NM_001243795.1:c.381G>T, NM_001243795.2:c.381G>A, NM_001243795.2:c.381G>T, NM_001243794.1:c.381G>A, NM_001243794.1:c.381G>T, NM_001243794.2:c.381G>A, NM_001243794.2:c.381G>T, XM_011515443.3:c.381G>A, XM_011515443.3:c.381G>T, XM_011515443.2:c.381G>A, XM_011515443.2:c.381G>T, XM_011515443.1:c.381G>A, XM_011515443.1:c.381G>T, XM_011515444.3:c.381G>A, XM_011515444.3:c.381G>T, XM_011515444.2:c.381G>A, XM_011515444.2:c.381G>T, XM_011515444.1:c.381G>A, XM_011515444.1:c.381G>T, XR_007060066.1:n.493G>A, XR_007060066.1:n.493G>T, XR_007060070.1:n.483G>A, XR_007060070.1:n.483G>T, XR_007060069.1:n.493G>A, XR_007060069.1:n.493G>T, XR_007060073.1:n.493G>A, XR_007060073.1:n.493G>T, XR_007060067.1:n.493G>A, XR_007060067.1:n.493G>T, XR_007060068.1:n.493G>A, XR_007060068.1:n.493G>T, XR_007060065.1:n.458G>A, XR_007060065.1:n.458G>T, XR_007060074.1:n.493G>A, XR_007060074.1:n.493G>T, XR_007060072.1:n.493G>A, XR_007060072.1:n.493G>T, XR_007060071.1:n.493G>A, XR_007060071.1:n.493G>T, XM_047420571.1:c.528G>A, XM_047420571.1:c.528G>T

Select item 146386257919.

rs1463862579 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:2433412 (GRCh38)
7:2473047 (GRCh37)
Canonical SPDI:: NC_000007.14:2433411:A:C,NC_000007.14:2433411:A:G
Gene:: CHST12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2433412A>C, NC_000007.14:g.2433412A>G, NC_000007.13:g.2473047A>C, NC_000007.13:g.2473047A>G, NG_029854.1:g.34853A>C, NG_029854.1:g.34853A>G, NM_018641.4:c.773A>C, NM_018641.4:c.773A>G, NM_018641.5:c.773A>C, NM_018641.5:c.773A>G, NM_001243795.1:c.773A>C, NM_001243795.1:c.773A>G, NM_001243795.2:c.773A>C, NM_001243795.2:c.773A>G, NM_001243794.1:c.773A>C, NM_001243794.1:c.773A>G, NM_001243794.2:c.773A>C, NM_001243794.2:c.773A>G, XM_011515443.3:c.773A>C, XM_011515443.3:c.773A>G, XM_011515443.2:c.773A>C, XM_011515443.2:c.773A>G, XM_011515443.1:c.773A>C, XM_011515443.1:c.773A>G, XM_011515444.3:c.773A>C, XM_011515444.3:c.773A>G, XM_011515444.2:c.773A>C, XM_011515444.2:c.773A>G, XM_011515444.1:c.773A>C, XM_011515444.1:c.773A>G, XR_007060066.1:n.885A>C, XR_007060066.1:n.885A>G, XR_007060070.1:n.875A>C, XR_007060070.1:n.875A>G, XR_007060069.1:n.885A>C, XR_007060069.1:n.885A>G, XR_007060073.1:n.885A>C, XR_007060073.1:n.885A>G, XR_007060067.1:n.885A>C, XR_007060067.1:n.885A>G, XR_007060068.1:n.885A>C, XR_007060068.1:n.885A>G, XR_007060065.1:n.850A>C, XR_007060065.1:n.850A>G, XR_007060074.1:n.885A>C, XR_007060074.1:n.885A>G, XR_007060072.1:n.885A>C, XR_007060072.1:n.885A>G, XR_007060071.1:n.885A>C, XR_007060071.1:n.885A>G, XM_047420571.1:c.920A>C, XM_047420571.1:c.920A>G, NP_061111.1:p.Lys258Thr, NP_061111.1:p.Lys258Arg, NP_001230724.1:p.Lys258Thr, NP_001230724.1:p.Lys258Arg, NP_001230723.1:p.Lys258Thr, NP_001230723.1:p.Lys258Arg, XP_011513745.1:p.Lys258Thr, XP_011513745.1:p.Lys258Arg, XP_011513746.1:p.Lys258Thr, XP_011513746.1:p.Lys258Arg, XP_047276527.1:p.Lys307Thr, XP_047276527.1:p.Lys307Arg

Select item 146219481120.

rs1462194811 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:2433881 (GRCh38)
7:2473516 (GRCh37)
Canonical SPDI:: NC_000007.14:2433880:C:T
Gene:: CHST12 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_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_000007.14:g.2433881C>T, NC_000007.13:g.2473516C>T, NG_029854.1:g.35322C>T, NM_018641.4:c.1242C>T, NM_018641.5:c.1242C>T, NM_001243795.1:c.1242C>T, NM_001243795.2:c.1242C>T, NM_001243794.1:c.1242C>T, NM_001243794.2:c.1242C>T, XM_011515443.3:c.1242C>T, XM_011515443.2:c.1242C>T, XM_011515443.1:c.1242C>T, XM_011515444.3:c.1242C>T, XM_011515444.2:c.1242C>T, XM_011515444.1:c.1242C>T, XR_007060066.1:n.1354C>T, XR_007060070.1:n.1344C>T, XR_007060069.1:n.1354C>T, XR_007060073.1:n.1354C>T, XR_007060067.1:n.1354C>T, XR_007060068.1:n.1354C>T, XR_007060065.1:n.1319C>T, XR_007060074.1:n.1354C>T, XR_007060072.1:n.1354C>T, XR_007060071.1:n.1354C>T, XM_047420571.1:c.1389C>T

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