rs137852556

Orientation

plus

Stabilized

plus

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

Make rs137852556(C;T)

Make rs137852556(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

640851

Gene

SHOX

is a	snp
is	mentioned by
dbSNP	rs137852556
dbSNP (classic)	rs137852556
ClinGen	rs137852556
ebi	rs137852556
HLI	rs137852556
Exac	rs137852556
Gnomad	rs137852556
Varsome	rs137852556
LitVar	rs137852556
Map	rs137852556
PheGenI	rs137852556
Biobank	rs137852556
1000 genomes	rs137852556
hgdp	rs137852556
ensembl	rs137852556
geneview	rs137852556
scholar	rs137852556
google	rs137852556
pharmgkb	rs137852556
gwascentral	rs137852556
openSNP	rs137852556
23andMe	rs137852556
SNPshot	rs137852556
SNPdbe	rs137852556
MSV3d	rs137852556
GWAS Ctlg	rs137852556

Max Magnitude

0

OMIM	312865
Desc
Variant	0007
Related	also

ClinVar
Risk	rs137852556(T;T)
Alt	rs137852556(T;T)
Reference	Rs137852556(C;C)
Significance	Pathogenic
Disease	Leri Weill dyschondrosteosis Short stature Langer mesomelic dysplasia syndrome
Variation	info
Gene	SHOX
CLNDBN	Leri Weill dyschondrosteosis Short stature, idiopathic, X-linked Langer mesomelic dysplasia syndrome
Reversed	0
HGVS	NC_000023.10:g.601586C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010554.3, RCV000305577.1, RCV000394044.1,