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rs119460973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119460973(A;A)
Make rs119460973(A;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position108074616
GeneOSTM1
is asnp
is mentioned by
dbSNPrs119460973
ebirs119460973
HLIrs119460973
Exacrs119460973
Varsomers119460973
Maprs119460973
PheGenIrs119460973
hapmaprs119460973
1000 genomesrs119460973
hgdprs119460973
ensemblrs119460973
gopubmedrs119460973
geneviewrs119460973
scholarrs119460973
googlers119460973
pharmgkbrs119460973
gwascentralrs119460973
openSNPrs119460973
23andMers119460973
23andMe allrs119460973
SNP Nexus

SNPshotrs119460973
SNPdbers119460973
MSV3drs119460973
GWAS Ctlgrs119460973
Max Magnitude0
OMIM607649
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119460973(A;A)
Alt rs119460973(A;A)
Reference rs119460973(T;T)
Significance Pathogenic
Disease Osteopetrosis
Variation info
Gene OSTM1
CLNDBN Osteopetrosis, autosomal recessive 5
Reversed 1
HGVS NC_000006.11:g.108395820A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003078.2,