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rs104894659

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894659(C;T)
Make rs104894659(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position13884918
GeneMC2R
is asnp
is mentioned by
dbSNPrs104894659
dbSNP (classic)rs104894659
ClinGenrs104894659
ebirs104894659
HLIrs104894659
Exacrs104894659
Gnomadrs104894659
Varsomers104894659
LitVarrs104894659
Maprs104894659
PheGenIrs104894659
Biobankrs104894659
1000 genomesrs104894659
hgdprs104894659
ensemblrs104894659
geneviewrs104894659
scholarrs104894659
googlers104894659
pharmgkbrs104894659
gwascentralrs104894659
openSNPrs104894659
23andMers104894659
SNPshotrs104894659
SNPdbers104894659
MSV3drs104894659
GWAS Ctlgrs104894659
Max Magnitude0
OMIM607397
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894659(A;A) rs104894659(T;T)
Alt rs104894659(A;A) rs104894659(T;T)
Reference Rs104894659(C;C)
Significance Pathogenic
Disease ACTH resistance
Variation info
Gene MC2R
CLNDBN ACTH resistance
Reversed 1
HGVS NC_000018.9:g.13884917G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003415.4,