rs1057517462

Orientation

plus

Stabilized

plus

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

Make rs1057517462(-;-)

Make rs1057517462(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149977859

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517462
dbSNP (classic)	rs1057517462
ClinGen	rs1057517462
ebi	rs1057517462
HLI	rs1057517462
Exac	rs1057517462
Gnomad	rs1057517462
Varsome	rs1057517462
LitVar	rs1057517462
Map	rs1057517462
PheGenI	rs1057517462
Biobank	rs1057517462
1000 genomes	rs1057517462
hgdp	rs1057517462
ensembl	rs1057517462
geneview	rs1057517462
scholar	rs1057517462
google	rs1057517462
pharmgkb	rs1057517462
gwascentral	rs1057517462
openSNP	rs1057517462
23andMe	rs1057517462
SNPshot	rs1057517462
SNPdbe	rs1057517462
MSV3d	rs1057517462
GWAS Ctlg	rs1057517462

Max Magnitude

0

ClinVar
Risk	rs1057517462(-;-)
Alt	rs1057517462(-;-)
Reference	Rs1057517462(T;T)
Significance	Probable-Pathogenic
Disease	Achondrogenesis Diastrophic dysplasia Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2
Variation	info
Gene	SLC26A2
CLNDBN	Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2
Reversed	0
HGVS	NC_000005.9:g.149357422delT
CLNSRC
CLNACC	RCV000409102.1, RCV000409375.1, RCV000410474.1, RCV000411549.1,