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rs104894656

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894656(C;G)
Make rs104894656(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position13885159
GeneMC2R
is asnp
is mentioned by
dbSNPrs104894656
dbSNP (classic)rs104894656
ClinGenrs104894656
ebirs104894656
HLIrs104894656
Exacrs104894656
Gnomadrs104894656
Varsomers104894656
LitVarrs104894656
Maprs104894656
PheGenIrs104894656
Biobankrs104894656
1000 genomesrs104894656
hgdprs104894656
ensemblrs104894656
geneviewrs104894656
scholarrs104894656
googlers104894656
pharmgkbrs104894656
gwascentralrs104894656
openSNPrs104894656
23andMers104894656
SNPshotrs104894656
SNPdbers104894656
MSV3drs104894656
GWAS Ctlgrs104894656
Max Magnitude0
OMIM607397
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894656(G;G)
Alt rs104894656(G;G)
Reference Rs104894656(C;C)
Significance Pathogenic
Disease ACTH resistance
Variation info
Gene MC2R
CLNDBN ACTH resistance
Reversed 1
HGVS NC_000018.9:g.13885158G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003416.4,