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rs121917842

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917842(A;A)
Make rs121917842(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position177994230
GenePROP1
is asnp
is mentioned by
dbSNPrs121917842
dbSNP (classic)rs121917842
ClinGenrs121917842
ebirs121917842
HLIrs121917842
Exacrs121917842
Gnomadrs121917842
Varsomers121917842
LitVarrs121917842
Maprs121917842
PheGenIrs121917842
Biobankrs121917842
1000 genomesrs121917842
hgdprs121917842
ensemblrs121917842
geneviewrs121917842
scholarrs121917842
googlers121917842
pharmgkbrs121917842
gwascentralrs121917842
openSNPrs121917842
23andMers121917842
SNPshotrs121917842
SNPdbers121917842
MSV3drs121917842
GWAS Ctlgrs121917842
Max Magnitude0
ClinVar
Risk rs121917842(A;A)
Alt rs121917842(A;A)
Reference Rs121917842(G;G)
Significance Pathogenic
Disease Pituitary hormone deficiency
Variation info
Gene PROP1
CLNDBN Pituitary hormone deficiency, combined 2
Reversed 1
HGVS NC_000005.9:g.177421231C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008571.3,