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rs104894658

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894658(G;T)
Make rs104894658(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position13885298
GeneMC2R
is asnp
is mentioned by
dbSNPrs104894658
dbSNP (classic)rs104894658
ClinGenrs104894658
ebirs104894658
HLIrs104894658
Exacrs104894658
Gnomadrs104894658
Varsomers104894658
LitVarrs104894658
Maprs104894658
PheGenIrs104894658
Biobankrs104894658
1000 genomesrs104894658
hgdprs104894658
ensemblrs104894658
geneviewrs104894658
scholarrs104894658
googlers104894658
pharmgkbrs104894658
gwascentralrs104894658
openSNPrs104894658
23andMers104894658
SNPshotrs104894658
SNPdbers104894658
MSV3drs104894658
GWAS Ctlgrs104894658
Max Magnitude0
OMIM607397
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894658(T;T)
Alt rs104894658(T;T)
Reference Rs104894658(G;G)
Significance Pathogenic
Disease ACTH resistance
Variation info
Gene MC2R
CLNDBN ACTH resistance
Reversed 1
HGVS NC_000018.9:g.13885297C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003414.3,