rs386833495

plus

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

Make rs386833495(-;-)

Make rs386833495(-;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149980987

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs386833495
dbSNP (classic)	rs386833495
ClinGen	rs386833495
ebi	rs386833495
HLI	rs386833495
Exac	rs386833495
Gnomad	rs386833495
Varsome	rs386833495
LitVar	rs386833495
Map	rs386833495
PheGenI	rs386833495
Biobank	rs386833495
1000 genomes	rs386833495
hgdp	rs386833495
ensembl	rs386833495
geneview	rs386833495
scholar	rs386833495
google	rs386833495
pharmgkb	rs386833495
gwascentral	rs386833495
openSNP	rs386833495
23andMe	rs386833495
SNPshot	rs386833495
SNPdbe	rs386833495
MSV3d	rs386833495
GWAS Ctlg	rs386833495

Max Magnitude

0

ClinVar
Risk	rs386833495(-;-)
Alt	rs386833495(-;-)
Reference	Rs386833495(T;T)
Significance	Probable-Pathogenic
Disease	Diastrophic dysplasia Achondrogenesis Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2
Variation	info
Gene	SLC26A2
CLNDBN	Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2
Reversed	0
HGVS	NC_000005.9:g.149360550delT
CLNSRC	ClinVar
CLNACC	RCV000049423.1, RCV000410056.1, RCV000410943.1, RCV000412478.1,

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