rs121908673

Orientation

plus

Stabilized

plus

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

Make rs121908673(C;T)

Make rs121908673(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68363818

Gene

LRP5

is a	snp
is	mentioned by
dbSNP	rs121908673
dbSNP (classic)	rs121908673
ClinGen	rs121908673
ebi	rs121908673
HLI	rs121908673
Exac	rs121908673
Gnomad	rs121908673
Varsome	rs121908673
LitVar	rs121908673
Map	rs121908673
PheGenI	rs121908673
Biobank	rs121908673
1000 genomes	rs121908673
hgdp	rs121908673
ensembl	rs121908673
geneview	rs121908673
scholar	rs121908673
google	rs121908673
pharmgkb	rs121908673
gwascentral	rs121908673
openSNP	rs121908673
23andMe	rs121908673
SNPshot	rs121908673
SNPdbe	rs121908673
MSV3d	rs121908673
GWAS Ctlg	rs121908673

Max Magnitude

0

OMIM	603506
Desc
Variant	0018
Related	also

ClinVar
Risk	rs121908673(T;T)
Alt	rs121908673(T;T)
Reference	Rs121908673(C;C)
Significance	Pathogenic
Disease	Osteopetrosis autosomal dominant type 1
Variation	info
Gene	LRP5
CLNDBN	Osteopetrosis autosomal dominant type 1
Reversed	0
HGVS	NC_000011.9:g.68131286C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006665.3,