rs1057517495

Orientation

plus

Stabilized

plus

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

Make rs1057517495(-;-)

Make rs1057517495(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149980515

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517495
dbSNP (classic)	rs1057517495
ClinGen	rs1057517495
ebi	rs1057517495
HLI	rs1057517495
Exac	rs1057517495
Gnomad	rs1057517495
Varsome	rs1057517495
LitVar	rs1057517495
Map	rs1057517495
PheGenI	rs1057517495
Biobank	rs1057517495
1000 genomes	rs1057517495
hgdp	rs1057517495
ensembl	rs1057517495
geneview	rs1057517495
scholar	rs1057517495
google	rs1057517495
pharmgkb	rs1057517495
gwascentral	rs1057517495
openSNP	rs1057517495
23andMe	rs1057517495
SNPshot	rs1057517495
SNPdbe	rs1057517495
MSV3d	rs1057517495
GWAS Ctlg	rs1057517495

Max Magnitude

0

ClinVar
Risk	rs1057517495(-;-)
Alt	rs1057517495(-;-)
Reference	Rs1057517495(A;A)
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.149360078delA
CLNSRC
CLNACC	RCV000409603.1, RCV000410472.1, RCV000410703.1, RCV000411979.1,