rs386833499

plus

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

Make rs386833499(-;-)

Make rs386833499(-;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149981569

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs386833499
dbSNP (classic)	rs386833499
ClinGen	rs386833499
ebi	rs386833499
HLI	rs386833499
Exac	rs386833499
Gnomad	rs386833499
Varsome	rs386833499
LitVar	rs386833499
Map	rs386833499
PheGenI	rs386833499
Biobank	rs386833499
1000 genomes	rs386833499
hgdp	rs386833499
ensembl	rs386833499
geneview	rs386833499
scholar	rs386833499
google	rs386833499
pharmgkb	rs386833499
gwascentral	rs386833499
openSNP	rs386833499
23andMe	rs386833499
SNPshot	rs386833499
SNPdbe	rs386833499
MSV3d	rs386833499
GWAS Ctlg	rs386833499

Max Magnitude

0

ClinVar
Risk	rs386833499(-;-)
Alt	rs386833499(-;-)
Reference	Rs386833499(T;T)
Significance	Probable-Pathogenic
Disease	Diastrophic dysplasia Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Achondrogenesis
Variation	info
Gene	SLC26A2
CLNDBN	Diastrophic dysplasia Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Achondrogenesis, type IB
Reversed	0
HGVS	NC_000005.9:g.149361132delT
CLNSRC	ClinVar
CLNACC	RCV000049427.1, RCV000409521.1, RCV000411069.1, RCV000411727.1,

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