rs1057517514

Orientation

plus

Stabilized

plus

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

Make rs1057517514(C;G)

Make rs1057517514(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149980339

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517514
dbSNP (classic)	rs1057517514
ClinGen	rs1057517514
ebi	rs1057517514
HLI	rs1057517514
Exac	rs1057517514
Gnomad	rs1057517514
Varsome	rs1057517514
LitVar	rs1057517514
Map	rs1057517514
PheGenI	rs1057517514
Biobank	rs1057517514
1000 genomes	rs1057517514
hgdp	rs1057517514
ensembl	rs1057517514
geneview	rs1057517514
scholar	rs1057517514
google	rs1057517514
pharmgkb	rs1057517514
gwascentral	rs1057517514
openSNP	rs1057517514
23andMe	rs1057517514
SNPshot	rs1057517514
SNPdbe	rs1057517514
MSV3d	rs1057517514
GWAS Ctlg	rs1057517514

Max Magnitude

0

ClinVar
Risk	rs1057517514(G;G)
Alt	rs1057517514(G;G)
Reference	Rs1057517514(C;C)
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.149359902C>G
CLNSRC
CLNACC	RCV000409471.1, RCV000409703.1, RCV000410567.1, RCV000411690.1,