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i5047571

From SNPedia

23andMe dataI5047571
23andMe searchI5047571
opensnpI5047571
Gene (via rs)PSEN1
Chromosome14
iGeno Mag Summary
(A;A) 0 common/normal

aliasrs63750231
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(A;A) 0 common in clinvar
(A;C) 8 Early-onset Alzheimer's disease (in some cases)

rs63750231

early-onset Alzheimer's disease.

This is 23andMe's name for rs63750231. Note that while rs63750231 can have the values A, C, or G, 23andMe only tests for the A and G values. See discussion at rs63750231

The rs63750231(G) and (C) alleles are both reported to be rare dominant mutations leading to early-onset Alzheimer's disease. More information about the (G) mutation can be found in OMIM [104311.0010].

OMIM104311
Desc
Variant0010
Relatedalso