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rs137854503

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854503(C;T)
Make rs137854503(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position136198798
GeneLHX3
is asnp
is mentioned by
dbSNPrs137854503
dbSNP (classic)rs137854503
ClinGenrs137854503
ebirs137854503
HLIrs137854503
Exacrs137854503
Gnomadrs137854503
Varsomers137854503
LitVarrs137854503
Maprs137854503
PheGenIrs137854503
Biobankrs137854503
1000 genomesrs137854503
hgdprs137854503
ensemblrs137854503
geneviewrs137854503
scholarrs137854503
googlers137854503
pharmgkbrs137854503
gwascentralrs137854503
openSNPrs137854503
23andMers137854503
SNPshotrs137854503
SNPdbers137854503
MSV3drs137854503
GWAS Ctlgrs137854503
Max Magnitude0
OMIM600577
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137854503(T;T)
Alt rs137854503(T;T)
Reference Rs137854503(C;C)
Significance Pathogenic
Disease Pituitary hormone deficiency
Variation info
Gene LHX3
CLNDBN Pituitary hormone deficiency, combined 3
Reversed 1
HGVS NC_000009.11:g.139090644G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009590.3,