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rs104894117

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894117(A;G)
Make rs104894117(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position136199800
GeneLHX3
is asnp
is mentioned by
dbSNPrs104894117
dbSNP (classic)rs104894117
ClinGenrs104894117
ebirs104894117
HLIrs104894117
Exacrs104894117
Gnomadrs104894117
Varsomers104894117
LitVarrs104894117
Maprs104894117
PheGenIrs104894117
Biobankrs104894117
1000 genomesrs104894117
hgdprs104894117
ensemblrs104894117
geneviewrs104894117
scholarrs104894117
googlers104894117
pharmgkbrs104894117
gwascentralrs104894117
openSNPrs104894117
23andMers104894117
SNPshotrs104894117
SNPdbers104894117
MSV3drs104894117
GWAS Ctlgrs104894117
Max Magnitude0
OMIM600577
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894117(G;G)
Alt rs104894117(G;G)
Reference Rs104894117(A;A)
Significance Pathogenic
Disease Pituitary hormone deficiency
Variation info
Gene LHX3
CLNDBN Pituitary hormone deficiency, combined 3
Reversed 1
HGVS NC_000009.11:g.139091646T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009587.3,