rs1057517496

Orientation

plus

Stabilized

plus

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

Make rs1057517496(-;-)

Make rs1057517496(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149977840

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517496
dbSNP (classic)	rs1057517496
ClinGen	rs1057517496
ebi	rs1057517496
HLI	rs1057517496
Exac	rs1057517496
Gnomad	rs1057517496
Varsome	rs1057517496
LitVar	rs1057517496
Map	rs1057517496
PheGenI	rs1057517496
Biobank	rs1057517496
1000 genomes	rs1057517496
hgdp	rs1057517496
ensembl	rs1057517496
geneview	rs1057517496
scholar	rs1057517496
google	rs1057517496
pharmgkb	rs1057517496
gwascentral	rs1057517496
openSNP	rs1057517496
23andMe	rs1057517496
SNPshot	rs1057517496
SNPdbe	rs1057517496
MSV3d	rs1057517496
GWAS Ctlg	rs1057517496

Max Magnitude

0

ClinVar
Risk	rs1057517496(-;-)
Alt	rs1057517496(-;-)
Reference	Rs1057517496(A;A)
Significance	Probable-Pathogenic
Disease	Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Diastrophic dysplasia Achondrogenesis
Variation	info
Gene	SLC26A2
CLNDBN	Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Diastrophic dysplasia Achondrogenesis, type IB
Reversed	0
HGVS	NC_000005.9:g.149357403delA
CLNSRC
CLNACC	RCV000409732.1, RCV000410879.1, RCV000411718.1, RCV000412405.1,