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rs193922916

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of an Alzheimer's disease mutation
(T;T) 7 significantly increased alzheimer's risk
ReferenceGRCh38 38.1/141
Chromosome21
Position25897619
GeneAPP
is asnp
is mentioned by
dbSNPrs193922916
dbSNP (old)rs193922916
ClinGenrs193922916
ebirs193922916
HLIrs193922916
Exacrs193922916
Gnomadrs193922916
Varsomers193922916
Maprs193922916
PheGenIrs193922916
Biobankrs193922916
1000 genomesrs193922916
hgdprs193922916
ensemblrs193922916
gopubmedrs193922916
geneviewrs193922916
scholarrs193922916
googlers193922916
pharmgkbrs193922916
gwascentralrs193922916
openSNPrs193922916
23andMers193922916
23andMe allrs193922916
SNP Nexus

SNPshotrs193922916
SNPdbers193922916
MSV3drs193922916
GWAS Ctlgrs193922916
Max Magnitude7

rs193922916, also known as c.2018C>T, p.Ala673Val and A673V, represents a rare mutation in the APP gene on chromosome 21.

Most APP mutations leading to Alzheimer's disease are inherited dominantly, but A673V is an exception, as it appears to be inherited recessively. For more information about this mutation, see either AlzForum or OMIM.

23andMe name: i5004476


ClinVar
Risk Rs193922916(T;T)
Alt Rs193922916(T;T)
Reference Rs193922916(C;C)
Significance Pathogenic
Disease Alzheimer's disease
Variation info
Gene APP
CLNDBN Alzheimer's disease
Reversed 1
HGVS NC_000021.8:g.27269931G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019734.26,