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rs104893757

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893757(C;T)
Make rs104893757(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position87276392
GenePOU1F1
is asnp
is mentioned by
dbSNPrs104893757
dbSNP (classic)rs104893757
ClinGenrs104893757
ebirs104893757
HLIrs104893757
Exacrs104893757
Gnomadrs104893757
Varsomers104893757
LitVarrs104893757
Maprs104893757
PheGenIrs104893757
Biobankrs104893757
1000 genomesrs104893757
hgdprs104893757
ensemblrs104893757
geneviewrs104893757
scholarrs104893757
googlers104893757
pharmgkbrs104893757
gwascentralrs104893757
openSNPrs104893757
23andMers104893757
SNPshotrs104893757
SNPdbers104893757
MSV3drs104893757
GWAS Ctlgrs104893757
Max Magnitude0
OMIM173110
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104893757(T;T)
Alt rs104893757(T;T)
Reference Rs104893757(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.87325542G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014575.20,