rs1057517502

Orientation

plus

Stabilized

plus

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

Make rs1057517502(-;-)

Make rs1057517502(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149980931

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517502
dbSNP (classic)	rs1057517502
ClinGen	rs1057517502
ebi	rs1057517502
HLI	rs1057517502
Exac	rs1057517502
Gnomad	rs1057517502
Varsome	rs1057517502
LitVar	rs1057517502
Map	rs1057517502
PheGenI	rs1057517502
Biobank	rs1057517502
1000 genomes	rs1057517502
hgdp	rs1057517502
ensembl	rs1057517502
geneview	rs1057517502
scholar	rs1057517502
google	rs1057517502
pharmgkb	rs1057517502
gwascentral	rs1057517502
openSNP	rs1057517502
23andMe	rs1057517502
SNPshot	rs1057517502
SNPdbe	rs1057517502
MSV3d	rs1057517502
GWAS Ctlg	rs1057517502

Max Magnitude

0

ClinVar
Risk	rs1057517502(-;-)
Alt	rs1057517502(-;-)
Reference	Rs1057517502(A;A)
Significance	Probable-Pathogenic
Disease	Atelosteogenesis type 2 Achondrogenesis Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Variation	info
Gene	SLC26A2
CLNDBN	Atelosteogenesis type 2 Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Reversed	0
HGVS	NC_000005.9:g.149360494delA
CLNSRC
CLNACC	RCV000409624.1, RCV000410772.1, RCV000411028.1, RCV000411621.1,