rs386833494

plus

Geno	Mag	Summary
(AAAC;AAAC)	0	common in clinvar
(CAAA;CAAA)	0	common in clinvar
(I;I)	0	common genotype

Make rs386833494(-;-)

Make rs386833494(-;AAAC)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149980835

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs386833494
dbSNP (classic)	rs386833494
ClinGen	rs386833494
ebi	rs386833494
HLI	rs386833494
Exac	rs386833494
Gnomad	rs386833494
Varsome	rs386833494
LitVar	rs386833494
Map	rs386833494
PheGenI	rs386833494
Biobank	rs386833494
1000 genomes	rs386833494
hgdp	rs386833494
ensembl	rs386833494
geneview	rs386833494
scholar	rs386833494
google	rs386833494
pharmgkb	rs386833494
gwascentral	rs386833494
openSNP	rs386833494
23andMe	rs386833494
SNPshot	rs386833494
SNPdbe	rs386833494
MSV3d	rs386833494
GWAS Ctlg	rs386833494

Max Magnitude

0

ClinVar
Risk	rs386833494(-;-)
Alt	rs386833494(-;-)
Reference	Rs386833494(CAAA;CAAA)
Significance	Probable-Pathogenic
Disease	Diastrophic dysplasia
Variation	info
Gene	SLC26A2
CLNDBN	Diastrophic dysplasia
Reversed	0
HGVS	NC_000005.9:g.149360398_149360401delAAAC
CLNSRC	ClinVar
CLNACC	RCV000049422.1,

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