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rs267607231

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607231(G;T)
Make rs267607231(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position13885143
GeneMC2R
is asnp
is mentioned by
dbSNPrs267607231
dbSNP (classic)rs267607231
ClinGenrs267607231
ebirs267607231
HLIrs267607231
Exacrs267607231
Gnomadrs267607231
Varsomers267607231
LitVarrs267607231
Maprs267607231
PheGenIrs267607231
Biobankrs267607231
1000 genomesrs267607231
hgdprs267607231
ensemblrs267607231
geneviewrs267607231
scholarrs267607231
googlers267607231
pharmgkbrs267607231
gwascentralrs267607231
openSNPrs267607231
23andMers267607231
SNPshotrs267607231
SNPdbers267607231
MSV3drs267607231
GWAS Ctlgrs267607231
Max Magnitude0
ClinVar
Risk rs267607231(A;A) rs267607231(T;T)
Alt rs267607231(A;A) rs267607231(T;T)
Reference Rs267607231(G;G)
Significance Pathogenic
Disease ACTH resistance
Variation info
Gene MC2R
CLNDBN ACTH resistance
Reversed 1
HGVS NC_000018.9:g.13885142C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003423.3,