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rs794727287

From SNPedia

Orientationminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs794727287(-;-)
Make rs794727287(-;AG)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position108064286
GeneOSTM1
is asnp
is mentioned by
dbSNPrs794727287
ebirs794727287
HLIrs794727287
Exacrs794727287
Varsomers794727287
Maprs794727287
PheGenIrs794727287
hapmaprs794727287
1000 genomesrs794727287
hgdprs794727287
ensemblrs794727287
gopubmedrs794727287
geneviewrs794727287
scholarrs794727287
googlers794727287
pharmgkbrs794727287
gwascentralrs794727287
openSNPrs794727287
23andMers794727287
23andMe allrs794727287
SNP Nexus

SNPshotrs794727287
SNPdbers794727287
MSV3drs794727287
GWAS Ctlgrs794727287
Max Magnitude0
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,