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rs121912641

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912641(C;C)
Make rs121912641(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position180271856
GeneACBD6, LHX4, LHX4-AS1
is asnp
is mentioned by
dbSNPrs121912641
dbSNP (classic)rs121912641
ClinGenrs121912641
ebirs121912641
HLIrs121912641
Exacrs121912641
Gnomadrs121912641
Varsomers121912641
LitVarrs121912641
Maprs121912641
PheGenIrs121912641
Biobankrs121912641
1000 genomesrs121912641
hgdprs121912641
ensemblrs121912641
geneviewrs121912641
scholarrs121912641
googlers121912641
pharmgkbrs121912641
gwascentralrs121912641
openSNPrs121912641
23andMers121912641
SNPshotrs121912641
SNPdbers121912641
MSV3drs121912641
GWAS Ctlgrs121912641
Max Magnitude0
OMIM602146
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912641(C;C)
Alt rs121912641(C;C)
Reference Rs121912641(G;G)
Significance Pathogenic
Disease Pituitary hormone deficiency
Variation info
Gene LHX4 LHX4-AS1
CLNDBN Pituitary hormone deficiency, combined 4
Reversed 0
HGVS NC_000001.10:g.180240991G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007936.2,