rs137852553

Orientation

plus

Stabilized

plus

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

Make rs137852553(C;G)

Make rs137852553(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

641051

Gene

SHOX

is a	snp
is	mentioned by
dbSNP	rs137852553
dbSNP (classic)	rs137852553
ClinGen	rs137852553
ebi	rs137852553
HLI	rs137852553
Exac	rs137852553
Gnomad	rs137852553
Varsome	rs137852553
LitVar	rs137852553
Map	rs137852553
PheGenI	rs137852553
Biobank	rs137852553
1000 genomes	rs137852553
hgdp	rs137852553
ensembl	rs137852553
geneview	rs137852553
scholar	rs137852553
google	rs137852553
pharmgkb	rs137852553
gwascentral	rs137852553
openSNP	rs137852553
23andMe	rs137852553
SNPshot	rs137852553
SNPdbe	rs137852553
MSV3d	rs137852553
GWAS Ctlg	rs137852553

Max Magnitude

0

OMIM	312865
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852553(G;G) rs137852553(T;T)
Alt	rs137852553(G;G) rs137852553(T;T)
Reference	Rs137852553(C;C)
Significance	Pathogenic
Disease	Leri Weill dyschondrosteosis
Variation	info
Gene	SHOX
CLNDBN	Leri Weill dyschondrosteosis
Reversed	0
HGVS	NC_000023.10:g.601786C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010548.2,