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rs104893754

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893754(C;T)
Make rs104893754(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position87262161
GenePOU1F1
is asnp
is mentioned by
dbSNPrs104893754
dbSNP (classic)rs104893754
ClinGenrs104893754
ebirs104893754
HLIrs104893754
Exacrs104893754
Gnomadrs104893754
Varsomers104893754
LitVarrs104893754
Maprs104893754
PheGenIrs104893754
Biobankrs104893754
1000 genomesrs104893754
hgdprs104893754
ensemblrs104893754
geneviewrs104893754
scholarrs104893754
googlers104893754
pharmgkbrs104893754
gwascentralrs104893754
openSNPrs104893754
23andMers104893754
SNPshotrs104893754
SNPdbers104893754
MSV3drs104893754
GWAS Ctlgrs104893754
Max Magnitude0
OMIM173110
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893754(T;T)
Alt rs104893754(T;T)
Reference Rs104893754(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.87311311G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014572.25,