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rs387907295

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907295(G;T)
Make rs387907295(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position133947292
GeneSLCO2A1
is asnp
is mentioned by
dbSNPrs387907295
dbSNP (classic)rs387907295
ClinGenrs387907295
ebirs387907295
HLIrs387907295
Exacrs387907295
Gnomadrs387907295
Varsomers387907295
LitVarrs387907295
Maprs387907295
PheGenIrs387907295
Biobankrs387907295
1000 genomesrs387907295
hgdprs387907295
ensemblrs387907295
geneviewrs387907295
scholarrs387907295
googlers387907295
pharmgkbrs387907295
gwascentralrs387907295
openSNPrs387907295
23andMers387907295
SNPshotrs387907295
SNPdbers387907295
MSV3drs387907295
GWAS Ctlgrs387907295
Max Magnitude0
ClinVar
Risk rs387907295(T;T)
Alt rs387907295(T;T)
Reference Rs387907295(G;G)
Significance Pathogenic
Disease Primary hypertrophic osteoarthropathy
Variation info
Gene SLCO2A1
CLNDBN Primary hypertrophic osteoarthropathy, autosomal recessive 2
Reversed 1
HGVS NC_000003.11:g.133666136C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030780.2,