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rs76308115

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs76308115(C;T)
Make rs76308115(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position178014454
GenePDE11A
is asnp
is mentioned by
dbSNPrs76308115
dbSNP (classic)rs76308115
ClinGenrs76308115
ebirs76308115
HLIrs76308115
Exacrs76308115
Gnomadrs76308115
Varsomers76308115
LitVarrs76308115
Maprs76308115
PheGenIrs76308115
Biobankrs76308115
1000 genomesrs76308115
hgdprs76308115
ensemblrs76308115
geneviewrs76308115
scholarrs76308115
googlers76308115
pharmgkbrs76308115
gwascentralrs76308115
openSNPrs76308115
23andMers76308115
SNPshotrs76308115
SNPdbers76308115
MSV3drs76308115
GWAS Ctlgrs76308115
GMAF0.001837
Max Magnitude0
OMIM604961
Desc
Variant0001
Relatedalso
ClinVar
Risk rs76308115(T;T)
Alt rs76308115(T;T)
Reference Rs76308115(C;C)
Significance Pathogenic
Disease Pigmented nodular adrenocortical disease not specified
Variation info
Gene PDE11A
CLNDBN Pigmented nodular adrenocortical disease, primary, 2 not specified
Reversed 1
HGVS NC_000002.11:g.178879181G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005604.3, RCV000434464.1,