Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912642

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912642(C;T)
Make rs121912642(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position180266393
GeneLHX4
is asnp
is mentioned by
dbSNPrs121912642
dbSNP (classic)rs121912642
ClinGenrs121912642
ebirs121912642
HLIrs121912642
Exacrs121912642
Gnomadrs121912642
Varsomers121912642
LitVarrs121912642
Maprs121912642
PheGenIrs121912642
Biobankrs121912642
1000 genomesrs121912642
hgdprs121912642
ensemblrs121912642
geneviewrs121912642
scholarrs121912642
googlers121912642
pharmgkbrs121912642
gwascentralrs121912642
openSNPrs121912642
23andMers121912642
SNPshotrs121912642
SNPdbers121912642
MSV3drs121912642
GWAS Ctlgrs121912642
Max Magnitude0
OMIM602146
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912642(T;T)
Alt rs121912642(T;T)
Reference Rs121912642(C;C)
Significance Pathogenic
Disease Pituitary hormone deficiency
Variation info
Gene LHX4
CLNDBN Pituitary hormone deficiency, combined 4
Reversed 0
HGVS NC_000001.10:g.180235528C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007937.2,