rs1057517513

Orientation

plus

Stabilized

plus

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

Make rs1057517513(-;-)

Make rs1057517513(-;AC)

Make rs1057517513(AC;AC)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149981591

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517513
dbSNP (classic)	rs1057517513
ClinGen	rs1057517513
ebi	rs1057517513
HLI	rs1057517513
Exac	rs1057517513
Gnomad	rs1057517513
Varsome	rs1057517513
LitVar	rs1057517513
Map	rs1057517513
PheGenI	rs1057517513
Biobank	rs1057517513
1000 genomes	rs1057517513
hgdp	rs1057517513
ensembl	rs1057517513
geneview	rs1057517513
scholar	rs1057517513
google	rs1057517513
pharmgkb	rs1057517513
gwascentral	rs1057517513
openSNP	rs1057517513
23andMe	rs1057517513
SNPshot	rs1057517513
SNPdbe	rs1057517513
MSV3d	rs1057517513
GWAS Ctlg	rs1057517513

Max Magnitude

0

ClinVar
Risk	rs1057517513(-;-)
Alt	rs1057517513(-;-)
Reference	Rs1057517513(CA;CA)
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.149361154_149361155delAC
CLNSRC
CLNACC	RCV000409121.1, RCV000410103.1, RCV000410720.1, RCV000411563.1,