rs137852554

Orientation

plus

Stabilized

plus

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

Make rs137852554(C;G)

Make rs137852554(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

634734

Gene

SHOX

is a	snp
is	mentioned by
dbSNP	rs137852554
dbSNP (classic)	rs137852554
ClinGen	rs137852554
ebi	rs137852554
HLI	rs137852554
Exac	rs137852554
Gnomad	rs137852554
Varsome	rs137852554
LitVar	rs137852554
Map	rs137852554
PheGenI	rs137852554
Biobank	rs137852554
1000 genomes	rs137852554
hgdp	rs137852554
ensembl	rs137852554
geneview	rs137852554
scholar	rs137852554
google	rs137852554
pharmgkb	rs137852554
gwascentral	rs137852554
openSNP	rs137852554
23andMe	rs137852554
SNPshot	rs137852554
SNPdbe	rs137852554
MSV3d	rs137852554
GWAS Ctlg	rs137852554

Max Magnitude

0

OMIM	312865
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137852554(G;G)
Alt	rs137852554(G;G)
Reference	Rs137852554(C;C)
Significance	Pathogenic
Disease	Leri Weill dyschondrosteosis
Variation	info
Gene	SHOX
CLNDBN	Leri Weill dyschondrosteosis
Reversed	0
HGVS	NC_000023.10:g.595469C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010551.2,