rs1057517526

Orientation

plus

Stabilized

plus

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

Make rs1057517526(-;-)

Make rs1057517526(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149980511

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517526
dbSNP (classic)	rs1057517526
ClinGen	rs1057517526
ebi	rs1057517526
HLI	rs1057517526
Exac	rs1057517526
Gnomad	rs1057517526
Varsome	rs1057517526
LitVar	rs1057517526
Map	rs1057517526
PheGenI	rs1057517526
Biobank	rs1057517526
1000 genomes	rs1057517526
hgdp	rs1057517526
ensembl	rs1057517526
geneview	rs1057517526
scholar	rs1057517526
google	rs1057517526
pharmgkb	rs1057517526
gwascentral	rs1057517526
openSNP	rs1057517526
23andMe	rs1057517526
SNPshot	rs1057517526
SNPdbe	rs1057517526
MSV3d	rs1057517526
GWAS Ctlg	rs1057517526

Max Magnitude

0

ClinVar
Risk	rs1057517526(-;-)
Alt	rs1057517526(-;-)
Reference	Rs1057517526(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.149360074delC
CLNSRC
CLNACC	RCV000409922.1, RCV000410085.1, RCV000411035.1, RCV000412037.1,