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rs387907296

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907296(A;T)
Make rs387907296(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position133973807
GeneSLCO2A1
is asnp
is mentioned by
dbSNPrs387907296
dbSNP (classic)rs387907296
ClinGenrs387907296
ebirs387907296
HLIrs387907296
Exacrs387907296
Gnomadrs387907296
Varsomers387907296
LitVarrs387907296
Maprs387907296
PheGenIrs387907296
Biobankrs387907296
1000 genomesrs387907296
hgdprs387907296
ensemblrs387907296
geneviewrs387907296
scholarrs387907296
googlers387907296
pharmgkbrs387907296
gwascentralrs387907296
openSNPrs387907296
23andMers387907296
SNPshotrs387907296
SNPdbers387907296
MSV3drs387907296
GWAS Ctlgrs387907296
Max Magnitude0
ClinVar
Risk rs387907296(G;G) rs387907296(T;T)
Alt rs387907296(G;G) rs387907296(T;T)
Reference Rs387907296(A;A)
Significance Pathogenic
Disease Primary hypertrophic osteoarthropathy
Variation info
Gene SLCO2A1
CLNDBN Primary hypertrophic osteoarthropathy, autosomal recessive 2
Reversed 1
HGVS NC_000003.11:g.133692651T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030781.2,