rs1057517530

Orientation

plus

Stabilized

plus

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

Make rs1057517530(-;-)

Make rs1057517530(-;AACT)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149981399

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517530
dbSNP (classic)	rs1057517530
ClinGen	rs1057517530
ebi	rs1057517530
HLI	rs1057517530
Exac	rs1057517530
Gnomad	rs1057517530
Varsome	rs1057517530
LitVar	rs1057517530
Map	rs1057517530
PheGenI	rs1057517530
Biobank	rs1057517530
1000 genomes	rs1057517530
hgdp	rs1057517530
ensembl	rs1057517530
geneview	rs1057517530
scholar	rs1057517530
google	rs1057517530
pharmgkb	rs1057517530
gwascentral	rs1057517530
openSNP	rs1057517530
23andMe	rs1057517530
SNPshot	rs1057517530
SNPdbe	rs1057517530
MSV3d	rs1057517530
GWAS Ctlg	rs1057517530

Max Magnitude

0

ClinVar
Risk	rs1057517530(-;-)
Alt	rs1057517530(-;-)
Reference	Rs1057517530(AACT;AACT)
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.149360962_149360965delAACT
CLNSRC
CLNACC	RCV000409656.1, RCV000410954.1, RCV000411101.1, RCV000412069.1,