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rs121908130

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908130(A;A)
Make rs121908130(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position77031225
GenePSTPIP1
is asnp
is mentioned by
dbSNPrs121908130
dbSNP (classic)rs121908130
ClinGenrs121908130
ebirs121908130
HLIrs121908130
Exacrs121908130
Gnomadrs121908130
Varsomers121908130
LitVarrs121908130
Maprs121908130
PheGenIrs121908130
Biobankrs121908130
1000 genomesrs121908130
hgdprs121908130
ensemblrs121908130
geneviewrs121908130
scholarrs121908130
googlers121908130
pharmgkbrs121908130
gwascentralrs121908130
openSNPrs121908130
23andMers121908130
SNPshotrs121908130
SNPdbers121908130
MSV3drs121908130
GWAS Ctlgrs121908130
Merged fromRs28939381
Max Magnitude0
OMIM606347
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908130(A;A)
Alt rs121908130(A;A)
Reference Rs121908130(G;G)
Significance Pathogenic
Disease Pyogenic arthritis not provided
Variation info
Gene PSTPIP1
CLNDBN Pyogenic arthritis, pyoderma gangrenosum and acne not provided
Reversed 0
HGVS NC_000015.9:g.77323566G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004685.2, RCV000419297.1,