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rs104893762

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893762(C;T)
Make rs104893762(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position87260055
GenePOU1F1
is asnp
is mentioned by
dbSNPrs104893762
dbSNP (classic)rs104893762
ClinGenrs104893762
ebirs104893762
HLIrs104893762
Exacrs104893762
Gnomadrs104893762
Varsomers104893762
LitVarrs104893762
Maprs104893762
PheGenIrs104893762
Biobankrs104893762
1000 genomesrs104893762
hgdprs104893762
ensemblrs104893762
geneviewrs104893762
scholarrs104893762
googlers104893762
pharmgkbrs104893762
gwascentralrs104893762
openSNPrs104893762
23andMers104893762
SNPshotrs104893762
SNPdbers104893762
MSV3drs104893762
GWAS Ctlgrs104893762
Max Magnitude0
OMIM173110
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104893762(T;T)
Alt rs104893762(T;T)
Reference Rs104893762(C;C)
Significance Pathogenic
Disease Pituitary hormone deficiency
Variation info
Gene POU1F1
CLNDBN Pituitary hormone deficiency, combined 1
Reversed 1
HGVS NC_000003.11:g.87309205G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014579.21,