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rs104893759

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893759(A;A)
Make rs104893759(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position87264299
GenePOU1F1
is asnp
is mentioned by
dbSNPrs104893759
dbSNP (classic)rs104893759
ClinGenrs104893759
ebirs104893759
HLIrs104893759
Exacrs104893759
Gnomadrs104893759
Varsomers104893759
LitVarrs104893759
Maprs104893759
PheGenIrs104893759
Biobankrs104893759
1000 genomesrs104893759
hgdprs104893759
ensemblrs104893759
geneviewrs104893759
scholarrs104893759
googlers104893759
pharmgkbrs104893759
gwascentralrs104893759
openSNPrs104893759
23andMers104893759
SNPshotrs104893759
SNPdbers104893759
MSV3drs104893759
GWAS Ctlgrs104893759
Max Magnitude0
OMIM173110
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893759(A;A) rs104893759(T;T)
Alt rs104893759(A;A) rs104893759(T;T)
Reference Rs104893759(G;G)
Significance Pathogenic
Disease Pituitary hormone deficiency
Variation info
Gene POU1F1
CLNDBN Pituitary hormone deficiency, combined 1
Reversed 1
HGVS NC_000003.11:g.87313449C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014576.26,