rs200963884

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs200963884(C;C)

Make rs200963884(C;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149980292

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs200963884
dbSNP (classic)	rs200963884
ClinGen	rs200963884
ebi	rs200963884
HLI	rs200963884
Exac	rs200963884
Gnomad	rs200963884
Varsome	rs200963884
LitVar	rs200963884
Map	rs200963884
PheGenI	rs200963884
Biobank	rs200963884
1000 genomes	rs200963884
hgdp	rs200963884
ensembl	rs200963884
geneview	rs200963884
scholar	rs200963884
google	rs200963884
pharmgkb	rs200963884
gwascentral	rs200963884
openSNP	rs200963884
23andMe	rs200963884
SNPshot	rs200963884
SNPdbe	rs200963884
MSV3d	rs200963884
GWAS Ctlg	rs200963884

Max Magnitude

0

ClinVar
Risk	rs200963884(C;C)
Alt	rs200963884(C;C)
Reference	Rs200963884(G;G)
Significance	Probable-Pathogenic
Disease	Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Variation	info
Gene	SLC26A2
CLNDBN	Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Reversed	0
HGVS	NC_000005.9:g.149359855G>C
CLNSRC	ClinVar
CLNACC	RCV000049436.1, RCV000169177.1,

[PMID 7923357] The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.

[PMID 8702127] A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.

[PMID 8723100] A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.

[PMID 21155763] Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.