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rs104893756

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893756(C;C)
Make rs104893756(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position87262203
GenePOU1F1
is asnp
is mentioned by
dbSNPrs104893756
dbSNP (classic)rs104893756
ClinGenrs104893756
ebirs104893756
HLIrs104893756
Exacrs104893756
Gnomadrs104893756
Varsomers104893756
LitVarrs104893756
Maprs104893756
PheGenIrs104893756
Biobankrs104893756
1000 genomesrs104893756
hgdprs104893756
ensemblrs104893756
geneviewrs104893756
scholarrs104893756
googlers104893756
pharmgkbrs104893756
gwascentralrs104893756
openSNPrs104893756
23andMers104893756
SNPshotrs104893756
SNPdbers104893756
MSV3drs104893756
GWAS Ctlgrs104893756
Max Magnitude0
OMIM173110
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104893756(A;A) rs104893756(C;C)
Alt rs104893756(A;A) rs104893756(C;C)
Reference Rs104893756(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.87311353C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014574.26,