rs1057517527

Orientation

plus

Stabilized

plus

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

Make rs1057517527(-;-)

Make rs1057517527(-;TG)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

149978137

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs1057517527
dbSNP (classic)	rs1057517527
ClinGen	rs1057517527
ebi	rs1057517527
HLI	rs1057517527
Exac	rs1057517527
Gnomad	rs1057517527
Varsome	rs1057517527
LitVar	rs1057517527
Map	rs1057517527
PheGenI	rs1057517527
Biobank	rs1057517527
1000 genomes	rs1057517527
hgdp	rs1057517527
ensembl	rs1057517527
geneview	rs1057517527
scholar	rs1057517527
google	rs1057517527
pharmgkb	rs1057517527
gwascentral	rs1057517527
openSNP	rs1057517527
23andMe	rs1057517527
SNPshot	rs1057517527
SNPdbe	rs1057517527
MSV3d	rs1057517527
GWAS Ctlg	rs1057517527

Max Magnitude

0

ClinVar
Risk	rs1057517527(-;-)
Alt	rs1057517527(-;-)
Reference	Rs1057517527(TG;TG)
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.149357700_149357701delTG
CLNSRC
CLNACC	RCV000409216.1, RCV000410244.1, RCV000411191.1, RCV000411337.1,