rs397514462

Orientation

plus

Stabilized

plus

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

Make rs397514462(A;A)

Make rs397514462(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

640843

Gene

SHOX

is a	snp
is	mentioned by
dbSNP	rs397514462
dbSNP (classic)	rs397514462
ClinGen	rs397514462
ebi	rs397514462
HLI	rs397514462
Exac	rs397514462
Gnomad	rs397514462
Varsome	rs397514462
LitVar	rs397514462
Map	rs397514462
PheGenI	rs397514462
Biobank	rs397514462
1000 genomes	rs397514462
hgdp	rs397514462
ensembl	rs397514462
geneview	rs397514462
scholar	rs397514462
google	rs397514462
pharmgkb	rs397514462
gwascentral	rs397514462
openSNP	rs397514462
23andMe	rs397514462
SNPshot	rs397514462
SNPdbe	rs397514462
MSV3d	rs397514462
GWAS Ctlg	rs397514462

Max Magnitude

0

ClinVar
Risk	rs397514462(A;A)
Alt	rs397514462(A;A)
Reference	Rs397514462(C;C)
Significance	Pathogenic
Disease	Leri Weill dyschondrosteosis
Variation	info
Gene	SHOX
CLNDBN	Leri Weill dyschondrosteosis
Reversed	0
HGVS	NC_000023.10:g.601578C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022889.4,