rs794727287

Orientation

minus

Stabilized

minus

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

Make rs794727287(-;-)

Make rs794727287(-;AG)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

108064286

Gene

OSTM1

is a	snp
is	mentioned by
dbSNP	rs794727287
dbSNP (classic)	rs794727287
ClinGen	rs794727287
ebi	rs794727287
HLI	rs794727287
Exac	rs794727287
Gnomad	rs794727287
Varsome	rs794727287
LitVar	rs794727287
Map	rs794727287
PheGenI	rs794727287
Biobank	rs794727287
1000 genomes	rs794727287
hgdp	rs794727287
ensembl	rs794727287
geneview	rs794727287
scholar	rs794727287
google	rs794727287
pharmgkb	rs794727287
gwascentral	rs794727287
openSNP	rs794727287
23andMe	rs794727287
SNPshot	rs794727287
SNPdbe	rs794727287
MSV3d	rs794727287
GWAS Ctlg	rs794727287

Max Magnitude

0

ClinVar
Risk	rs794727287(-;-)
Alt	rs794727287(-;-)
Reference	Rs794727287(AG;AG)
Significance	Pathogenic
Disease	Osteopetrosis
Variation	info
Gene	OSTM1
CLNDBN	Osteopetrosis, autosomal recessive 5
Reversed	1
HGVS	NC_000006.11:g.108385490_108385491delCT
CLNSRC
CLNACC	RCV000175853.1,