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rs104894190

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894190(A;A)
Make rs104894190(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position67490911
GeneAIP
is asnp
is mentioned by
dbSNPrs104894190
ebirs104894190
HLIrs104894190
Exacrs104894190
Varsomers104894190
Maprs104894190
PheGenIrs104894190
hapmaprs104894190
1000 genomesrs104894190
hgdprs104894190
ensemblrs104894190
gopubmedrs104894190
geneviewrs104894190
scholarrs104894190
googlers104894190
pharmgkbrs104894190
gwascentralrs104894190
openSNPrs104894190
23andMers104894190
23andMe allrs104894190
SNP Nexus

SNPshotrs104894190
SNPdbers104894190
MSV3drs104894190
GWAS Ctlgrs104894190
Max Magnitude0
OMIM605555
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894190(A;A)
Alt rs104894190(A;A)
Reference rs104894190(G;G)
Significance Pathogenic
Disease Pituitary dependent hypercortisolism
Variation info
Gene AIP
CLNDBN Pituitary dependent hypercortisolism
Reversed 0
HGVS NC_000011.9:g.67258382G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005171.1,


GET Evidence
AIP-R304Q
aa_change Arg304Gln
aa_change_short R304Q
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.000558451
summary Proposed to cause predisposition to pituitary adenomas, seen in a single Cushing's syndrome case. Many individuals have pituitary adenomas (about one in five), very few go on to cause hormonal dysregulation. The single case reported for this variant lacked statistical significance.