rs137852557

Orientation

plus

Stabilized

plus

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

Make rs137852557(C;T)

Make rs137852557(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

640836

Gene

SHOX

is a	snp
is	mentioned by
dbSNP	rs137852557
dbSNP (classic)	rs137852557
ClinGen	rs137852557
ebi	rs137852557
HLI	rs137852557
Exac	rs137852557
Gnomad	rs137852557
Varsome	rs137852557
LitVar	rs137852557
Map	rs137852557
PheGenI	rs137852557
Biobank	rs137852557
1000 genomes	rs137852557
hgdp	rs137852557
ensembl	rs137852557
geneview	rs137852557
scholar	rs137852557
google	rs137852557
pharmgkb	rs137852557
gwascentral	rs137852557
openSNP	rs137852557
23andMe	rs137852557
SNPshot	rs137852557
SNPdbe	rs137852557
MSV3d	rs137852557
GWAS Ctlg	rs137852557

Max Magnitude

0

OMIM	312865
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137852557(T;T)
Alt	rs137852557(T;T)
Reference	Rs137852557(C;C)
Significance	Pathogenic
Disease	Langer mesomelic dysplasia syndrome Leri Weill dyschondrosteosis
Variation	info
Gene	SHOX
CLNDBN	Langer mesomelic dysplasia syndrome Leri Weill dyschondrosteosis
Reversed	0
HGVS	NC_000023.10:g.601571C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010555.4, RCV000010556.3,