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rs121918112

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918112(A;T)
Make rs121918112(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position25161734
GenePOMC
is asnp
is mentioned by
dbSNPrs121918112
ebirs121918112
HLIrs121918112
Exacrs121918112
Varsomers121918112
Maprs121918112
PheGenIrs121918112
hapmaprs121918112
1000 genomesrs121918112
hgdprs121918112
ensemblrs121918112
gopubmedrs121918112
geneviewrs121918112
scholarrs121918112
googlers121918112
pharmgkbrs121918112
gwascentralrs121918112
openSNPrs121918112
23andMers121918112
23andMe allrs121918112
SNP Nexus

SNPshotrs121918112
SNPdbers121918112
MSV3drs121918112
GWAS Ctlgrs121918112
Max Magnitude0
OMIM176830
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918112(T;T)
Alt rs121918112(T;T)
Reference rs121918112(A;A)
Significance Pathogenic
Disease Proopiomelanocortin deficiency
Variation info
Gene POMC
CLNDBN Proopiomelanocortin deficiency
Reversed 1
HGVS NC_000002.11:g.25384603T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014286.24,