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rs200670135

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200670135(C;T)
Make rs200670135(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position226888972
GenePSEN2
is asnp
is mentioned by
dbSNPrs200670135
ebirs200670135
HLIrs200670135
Exacrs200670135
Varsomers200670135
Maprs200670135
PheGenIrs200670135
hapmaprs200670135
1000 genomesrs200670135
hgdprs200670135
ensemblrs200670135
gopubmedrs200670135
geneviewrs200670135
scholarrs200670135
googlers200670135
pharmgkbrs200670135
gwascentralrs200670135
openSNPrs200670135
23andMers200670135
23andMe allrs200670135
SNP Nexus

SNPshotrs200670135
SNPdbers200670135
MSV3drs200670135
GWAS Ctlgrs200670135
Max Magnitude0
rs200670135, also known as c.710C>T, p.Ala237Val and A237V, represents a rare variant in the PSEN2 gene on chromosome 1.

[PMID 25104557OA-icon.png] This study of UK patients with late-onset Alzheimer's disease concludes this variant is most likely pathogenic, although note that the onset may be quite late (87 years of age).

ClinVar
Risk rs200670135(T;T)
Alt rs200670135(T;T)
Reference rs200670135(C;C)
Significance Unknown
Disease not provided
Variation info
Gene PSEN2
CLNDBN not provided
Reversed 0
HGVS NC_000001.10:g.227076673C>T
CLNSRC
CLNACC RCV000172100.1,