rs1057517523

Orientation

plus

Stabilized

plus

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

Make rs1057517523(C;G)

Make rs1057517523(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149977837

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517523
dbSNP (classic)	rs1057517523
ClinGen	rs1057517523
ebi	rs1057517523
HLI	rs1057517523
Exac	rs1057517523
Gnomad	rs1057517523
Varsome	rs1057517523
LitVar	rs1057517523
Map	rs1057517523
PheGenI	rs1057517523
Biobank	rs1057517523
1000 genomes	rs1057517523
hgdp	rs1057517523
ensembl	rs1057517523
geneview	rs1057517523
scholar	rs1057517523
google	rs1057517523
pharmgkb	rs1057517523
gwascentral	rs1057517523
openSNP	rs1057517523
23andMe	rs1057517523
SNPshot	rs1057517523
SNPdbe	rs1057517523
MSV3d	rs1057517523
GWAS Ctlg	rs1057517523

Max Magnitude

0

ClinVar
Risk	rs1057517523(G;G)
Alt	rs1057517523(G;G)
Reference	Rs1057517523(C;C)
Significance	Probable-Pathogenic
Disease	Atelosteogenesis type 2 Diastrophic dysplasia Achondrogenesis Multiple epiphyseal dysplasia 4
Variation	info
Gene	SLC26A2
CLNDBN	Atelosteogenesis type 2 Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia 4
Reversed	0
HGVS	NC_000005.9:g.149357400C>G
CLNSRC
CLNACC	RCV000409043.1, RCV000409914.1, RCV000410073.1, RCV000411463.1,