rs1057517482

Orientation

plus

Stabilized

plus

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

Make rs1057517482(-;-)

Make rs1057517482(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149981242

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517482
dbSNP (classic)	rs1057517482
ClinGen	rs1057517482
ebi	rs1057517482
HLI	rs1057517482
Exac	rs1057517482
Gnomad	rs1057517482
Varsome	rs1057517482
LitVar	rs1057517482
Map	rs1057517482
PheGenI	rs1057517482
Biobank	rs1057517482
1000 genomes	rs1057517482
hgdp	rs1057517482
ensembl	rs1057517482
geneview	rs1057517482
scholar	rs1057517482
google	rs1057517482
pharmgkb	rs1057517482
gwascentral	rs1057517482
openSNP	rs1057517482
23andMe	rs1057517482
SNPshot	rs1057517482
SNPdbe	rs1057517482
MSV3d	rs1057517482
GWAS Ctlg	rs1057517482

Max Magnitude

0

ClinVar
Risk	rs1057517482(-;-)
Alt	rs1057517482(-;-)
Reference	Rs1057517482(A;A)
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.149360805delA
CLNSRC
CLNACC	RCV000409538.1, RCV000409746.1, RCV000411088.1, RCV000412144.1,