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rs104894660

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894660(C;T)
Make rs104894660(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position13885110
GeneMC2R
is asnp
is mentioned by
dbSNPrs104894660
dbSNP (classic)rs104894660
ClinGenrs104894660
ebirs104894660
HLIrs104894660
Exacrs104894660
Gnomadrs104894660
Varsomers104894660
LitVarrs104894660
Maprs104894660
PheGenIrs104894660
Biobankrs104894660
1000 genomesrs104894660
hgdprs104894660
ensemblrs104894660
geneviewrs104894660
scholarrs104894660
googlers104894660
pharmgkbrs104894660
gwascentralrs104894660
openSNPrs104894660
23andMers104894660
SNPshotrs104894660
SNPdbers104894660
MSV3drs104894660
GWAS Ctlgrs104894660
Max Magnitude0
OMIM607397
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894660(A;A) rs104894660(T;T)
Alt rs104894660(A;A) rs104894660(T;T)
Reference Rs104894660(C;C)
Significance Pathogenic
Disease ACTH resistance
Variation info
Gene MC2R
CLNDBN ACTH resistance
Reversed 1
HGVS NC_000018.9:g.13885109G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003421.3,