rs1057517471

Orientation

plus

Stabilized

plus

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

Make rs1057517471(-;T)

Make rs1057517471(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149980904

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517471
dbSNP (classic)	rs1057517471
ClinGen	rs1057517471
ebi	rs1057517471
HLI	rs1057517471
Exac	rs1057517471
Gnomad	rs1057517471
Varsome	rs1057517471
LitVar	rs1057517471
Map	rs1057517471
PheGenI	rs1057517471
Biobank	rs1057517471
1000 genomes	rs1057517471
hgdp	rs1057517471
ensembl	rs1057517471
geneview	rs1057517471
scholar	rs1057517471
google	rs1057517471
pharmgkb	rs1057517471
gwascentral	rs1057517471
openSNP	rs1057517471
23andMe	rs1057517471
SNPshot	rs1057517471
SNPdbe	rs1057517471
MSV3d	rs1057517471
GWAS Ctlg	rs1057517471

Max Magnitude

0

ClinVar
Risk	rs1057517471(T;T)
Alt	rs1057517471(T;T)
Reference	Rs1057517471(-;-)
Significance	Probable-Pathogenic
Disease	Atelosteogenesis type 2 Achondrogenesis Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Variation	info
Gene	SLC26A2
CLNDBN	Atelosteogenesis type 2 Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Reversed	0
HGVS	NC_000005.9:g.149360467dupT
CLNSRC
CLNACC	RCV000410215.1, RCV000411307.1, RCV000411541.1, RCV000412220.1,