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rs104894657

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894657(C;T)
Make rs104894657(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position13885137
GeneMC2R
is asnp
is mentioned by
dbSNPrs104894657
dbSNP (classic)rs104894657
ClinGenrs104894657
ebirs104894657
HLIrs104894657
Exacrs104894657
Gnomadrs104894657
Varsomers104894657
LitVarrs104894657
Maprs104894657
PheGenIrs104894657
Biobankrs104894657
1000 genomesrs104894657
hgdprs104894657
ensemblrs104894657
geneviewrs104894657
scholarrs104894657
googlers104894657
pharmgkbrs104894657
gwascentralrs104894657
openSNPrs104894657
23andMers104894657
SNPshotrs104894657
SNPdbers104894657
MSV3drs104894657
GWAS Ctlgrs104894657
Max Magnitude0
OMIM607397
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894657(T;T)
Alt rs104894657(T;T)
Reference Rs104894657(C;C)
Significance Pathogenic
Disease ACTH resistance
Variation info
Gene MC2R
CLNDBN ACTH resistance
Reversed 1
HGVS NC_000018.9:g.13885136G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003417.3,