rs1057517474

Orientation

plus

Stabilized

plus

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

Make rs1057517474(-;-)

Make rs1057517474(-;ACTG)

Make rs1057517474(ACTG;ACTG)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149981548

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517474
dbSNP (classic)	rs1057517474
ClinGen	rs1057517474
ebi	rs1057517474
HLI	rs1057517474
Exac	rs1057517474
Gnomad	rs1057517474
Varsome	rs1057517474
LitVar	rs1057517474
Map	rs1057517474
PheGenI	rs1057517474
Biobank	rs1057517474
1000 genomes	rs1057517474
hgdp	rs1057517474
ensembl	rs1057517474
geneview	rs1057517474
scholar	rs1057517474
google	rs1057517474
pharmgkb	rs1057517474
gwascentral	rs1057517474
openSNP	rs1057517474
23andMe	rs1057517474
SNPshot	rs1057517474
SNPdbe	rs1057517474
MSV3d	rs1057517474
GWAS Ctlg	rs1057517474

Max Magnitude

0

ClinVar
Risk	rs1057517474(-;-)
Alt	rs1057517474(-;-)
Reference	Rs1057517474(TGAC;TGAC)
Significance	Probable-Pathogenic
Disease	Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Diastrophic dysplasia Achondrogenesis
Variation	info
Gene	SLC26A2
CLNDBN	Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Diastrophic dysplasia Achondrogenesis, type IB
Reversed	0
HGVS	NC_000005.9:g.149361111_149361114delACTG
CLNSRC
CLNACC	RCV000409824.1, RCV000410934.1, RCV000411814.1, RCV000412444.1,