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rs121918111

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918111(G;T)
Make rs121918111(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position25161572
GenePOMC
is asnp
is mentioned by
dbSNPrs121918111
ebirs121918111
HLIrs121918111
Exacrs121918111
Varsomers121918111
Maprs121918111
PheGenIrs121918111
hapmaprs121918111
1000 genomesrs121918111
hgdprs121918111
ensemblrs121918111
gopubmedrs121918111
geneviewrs121918111
scholarrs121918111
googlers121918111
pharmgkbrs121918111
gwascentralrs121918111
openSNPrs121918111
23andMers121918111
23andMe allrs121918111
SNP Nexus

SNPshotrs121918111
SNPdbers121918111
MSV3drs121918111
GWAS Ctlgrs121918111
Max Magnitude0
OMIM176830
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918111(T;T)
Alt rs121918111(T;T)
Reference rs121918111(G;G)
Significance Pathogenic
Disease Proopiomelanocortin deficiency
Variation info
Gene POMC
CLNDBN Proopiomelanocortin deficiency
Reversed 1
HGVS NC_000002.11:g.25384441C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014281.25,