rs1057517532

Orientation

plus

Stabilized

plus

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

Make rs1057517532(G;T)

Make rs1057517532(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149980653

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517532
dbSNP (classic)	rs1057517532
ClinGen	rs1057517532
ebi	rs1057517532
HLI	rs1057517532
Exac	rs1057517532
Gnomad	rs1057517532
Varsome	rs1057517532
LitVar	rs1057517532
Map	rs1057517532
PheGenI	rs1057517532
Biobank	rs1057517532
1000 genomes	rs1057517532
hgdp	rs1057517532
ensembl	rs1057517532
geneview	rs1057517532
scholar	rs1057517532
google	rs1057517532
pharmgkb	rs1057517532
gwascentral	rs1057517532
openSNP	rs1057517532
23andMe	rs1057517532
SNPshot	rs1057517532
SNPdbe	rs1057517532
MSV3d	rs1057517532
GWAS Ctlg	rs1057517532

Max Magnitude

0

ClinVar
Risk	rs1057517532(T;T)
Alt	rs1057517532(T;T)
Reference	Rs1057517532(G;G)
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.149360216G>T
CLNSRC
CLNACC	RCV000409259.1, RCV000410391.1, RCV000410579.1, RCV000411229.1,