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rs104894661

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894661(A;A)
Make rs104894661(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position13885200
GeneMC2R
is asnp
is mentioned by
dbSNPrs104894661
dbSNP (classic)rs104894661
ClinGenrs104894661
ebirs104894661
HLIrs104894661
Exacrs104894661
Gnomadrs104894661
Varsomers104894661
LitVarrs104894661
Maprs104894661
PheGenIrs104894661
Biobankrs104894661
1000 genomesrs104894661
hgdprs104894661
ensemblrs104894661
geneviewrs104894661
scholarrs104894661
googlers104894661
pharmgkbrs104894661
gwascentralrs104894661
openSNPrs104894661
23andMers104894661
SNPshotrs104894661
SNPdbers104894661
MSV3drs104894661
GWAS Ctlgrs104894661
Max Magnitude0
OMIM607397
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894661(A;A)
Alt rs104894661(A;A)
Reference Rs104894661(G;G)
Significance Pathogenic
Disease ACTH resistance
Variation info
Gene MC2R
CLNDBN ACTH resistance
Reversed 1
HGVS NC_000018.9:g.13885199C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003418.3,