rs397514461

Orientation

plus

Stabilized

plus

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

Make rs397514461(C;C)

Make rs397514461(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

640842

Gene

SHOX

is a	snp
is	mentioned by
dbSNP	rs397514461
dbSNP (classic)	rs397514461
ClinGen	rs397514461
ebi	rs397514461
HLI	rs397514461
Exac	rs397514461
Gnomad	rs397514461
Varsome	rs397514461
LitVar	rs397514461
Map	rs397514461
PheGenI	rs397514461
Biobank	rs397514461
1000 genomes	rs397514461
hgdp	rs397514461
ensembl	rs397514461
geneview	rs397514461
scholar	rs397514461
google	rs397514461
pharmgkb	rs397514461
gwascentral	rs397514461
openSNP	rs397514461
23andMe	rs397514461
SNPshot	rs397514461
SNPdbe	rs397514461
MSV3d	rs397514461
GWAS Ctlg	rs397514461

Max Magnitude

0

ClinVar
Risk	rs397514461(C;C)
Alt	rs397514461(C;C)
Reference	Rs397514461(G;G)
Significance	Pathogenic
Disease	Leri Weill dyschondrosteosis Langer mesomelic dysplasia syndrome
Variation	info
Gene	SHOX
CLNDBN	Leri Weill dyschondrosteosis Langer mesomelic dysplasia syndrome
Reversed	0
HGVS	NC_000024.9:g.551577G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022887.3, RCV000022888.3,