rs386833497

plus

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

Make rs386833497(-;-)

Make rs386833497(-;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149981243

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs386833497
dbSNP (classic)	rs386833497
ClinGen	rs386833497
ebi	rs386833497
HLI	rs386833497
Exac	rs386833497
Gnomad	rs386833497
Varsome	rs386833497
LitVar	rs386833497
Map	rs386833497
PheGenI	rs386833497
Biobank	rs386833497
1000 genomes	rs386833497
hgdp	rs386833497
ensembl	rs386833497
geneview	rs386833497
scholar	rs386833497
google	rs386833497
pharmgkb	rs386833497
gwascentral	rs386833497
openSNP	rs386833497
23andMe	rs386833497
SNPshot	rs386833497
SNPdbe	rs386833497
MSV3d	rs386833497
GWAS Ctlg	rs386833497

Max Magnitude

0

ClinVar
Risk	rs386833497(-;-)
Alt	rs386833497(-;-)
Reference	Rs386833497(G;G)
Significance	Probable-Pathogenic
Disease	Diastrophic dysplasia Multiple epiphyseal dysplasia 4 SLC26A2-Related Disorders
Variation	info
Gene	SLC26A2
CLNDBN	Diastrophic dysplasia Multiple epiphyseal dysplasia 4 SLC26A2-Related Disorders
Reversed	0
HGVS	NC_000005.9:g.149360806delG
CLNSRC	ClinVar
CLNACC	RCV000049425.1, RCV000169577.1, RCV000305551.1,

[PMID 11241838] Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.