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rs63751106

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 7 Alzheimer's disease
(C;T) 7 Alzheimer's disease
(T;T) 0 common/normal


Make rs63751106(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73173643
GenePSEN1
is asnp
is mentioned by
dbSNPrs63751106
dbSNP (classic)rs63751106
ClinGenrs63751106
ebirs63751106
HLIrs63751106
Exacrs63751106
Gnomadrs63751106
Varsomers63751106
LitVarrs63751106
Maprs63751106
PheGenIrs63751106
Biobankrs63751106
1000 genomesrs63751106
hgdprs63751106
ensemblrs63751106
geneviewrs63751106
scholarrs63751106
googlers63751106
pharmgkbrs63751106
gwascentralrs63751106
openSNPrs63751106
23andMers63751106
23andMe allrs63751106
SNPshotrs63751106
SNPdbers63751106
MSV3drs63751106
GWAS Ctlgrs63751106
Max Magnitude7

rs63751106, also known as c.416T>A, Met139Lys and M139K, and also c.416T>C, Met139Thr or M139T, is a SNP in the presenilin 1 PSEN1 gene.

Inherited as an autosomal dominant, the rare rs63751106(A) and rs63751106(C) alleles are both considered pathogenic for late-onset Alzheimer's disease in AlzForum.

23andMe name for the T>A version: i5047502

Both are reported in [PMID 28350801OA-icon.png] to be a "definitely" pathogenic mutation.

ClinVar
Risk rs63751106(C;C)
Alt rs63751106(C;C)
Reference Rs63751106(T;T)
Significance Untested
Disease not provided
Variation info
Gene PSEN1
CLNDBN not provided
Reversed 0
HGVS NC_000014.8:g.73640351T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000084305.1,