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rs28940892

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28940892(A;G)
Make rs28940892(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position13884758
GeneMC2R
is asnp
is mentioned by
dbSNPrs28940892
ebirs28940892
HLIrs28940892
Exacrs28940892
Varsomers28940892
Maprs28940892
PheGenIrs28940892
hapmaprs28940892
1000 genomesrs28940892
hgdprs28940892
ensemblrs28940892
gopubmedrs28940892
geneviewrs28940892
scholarrs28940892
googlers28940892
pharmgkbrs28940892
gwascentralrs28940892
openSNPrs28940892
23andMers28940892
23andMe allrs28940892
SNP Nexus

SNPshotrs28940892
SNPdbers28940892
MSV3drs28940892
GWAS Ctlgrs28940892
Max Magnitude0
OMIM607397
DescGLUCOCORTICOID DEFICIENCY 1
Variant0009
Relatedalso


ClinVar
Risk rs28940892(G;G)
Alt rs28940892(G;G)
Reference rs28940892(A;A)
Significance Pathogenic
Disease ACTH resistance
Variation info
Gene MC2R
CLNDBN ACTH resistance
Reversed 1
HGVS NC_000018.9:g.13884757T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003422.3,