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rs137854504

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs137854504(GC;TCCT)
Make rs137854504(TCCT;TCCT)
ReferenceGRCh38 38.1/141
Chromosome9
Position136199844
GeneLHX3
is asnp
is mentioned by
dbSNPrs137854504
dbSNP (classic)rs137854504
ClinGenrs137854504
ebirs137854504
HLIrs137854504
Exacrs137854504
Gnomadrs137854504
Varsomers137854504
LitVarrs137854504
Maprs137854504
PheGenIrs137854504
Biobankrs137854504
1000 genomesrs137854504
hgdprs137854504
ensemblrs137854504
geneviewrs137854504
scholarrs137854504
googlers137854504
pharmgkbrs137854504
gwascentralrs137854504
openSNPrs137854504
23andMers137854504
SNPshotrs137854504
SNPdbers137854504
MSV3drs137854504
GWAS Ctlgrs137854504
Max Magnitude0
OMIM600577
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137854504(TCCT;TCCT)
Alt rs137854504(TCCT;TCCT)
Reference Rs137854504(GC;GC)
Significance Pathogenic
Disease Pituitary hormone deficiency
Variation info
Gene LHX3
CLNDBN Pituitary hormone deficiency, combined 3
Reversed 1
HGVS NC_000009.11:g.139091690_139091691delGCinsAGGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000009591.3,