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rs104893758

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893758(C;C)
Make rs104893758(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position87262098
GenePOU1F1
is asnp
is mentioned by
dbSNPrs104893758
dbSNP (classic)rs104893758
ClinGenrs104893758
ebirs104893758
HLIrs104893758
Exacrs104893758
Gnomadrs104893758
Varsomers104893758
LitVarrs104893758
Maprs104893758
PheGenIrs104893758
Biobankrs104893758
1000 genomesrs104893758
hgdprs104893758
ensemblrs104893758
geneviewrs104893758
scholarrs104893758
googlers104893758
pharmgkbrs104893758
gwascentralrs104893758
openSNPrs104893758
23andMers104893758
SNPshotrs104893758
SNPdbers104893758
MSV3drs104893758
GWAS Ctlgrs104893758
Max Magnitude0
OMIM173110
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104893758(C;C)
Alt rs104893758(C;C)
Reference Rs104893758(T;T)
Significance Pathogenic
Disease Pituitary hormone deficiency
Variation info
Gene POU1F1
CLNDBN Pituitary hormone deficiency, combined 1
Reversed 1
HGVS NC_000003.11:g.87311248A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014581.27,