Database of Pathogenic Variants
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Disease Detail
Disease Name
Alzheimer disease 1
OMIM:104300
MedGen:C1863052
Associated Genes and Variants
APP
NM_000484.3:c.1530G>C
NM_000484.3:c.2032G>A
NM_000484.3:c.2079_2081delAGA
NM_000484.3:c.2149G>A
GRN
NM_002087.3:c.355_357delAAC
MAPT
NM_005910:c.1216C>T
NM_005910:c.14G>A
NM_005910:c.837T>G
PSEN1
NM_000021.3:c.1133G>A
NM_000021.3:c.1141C>G
NM_000021.3:c.1151G>C
NM_000021.3:c.1158C>A
NM_000021.3:c.1174C>G
NM_000021.3:c.1214A>G
NM_000021.3:c.1259T>C
NM_000021.3:c.1292C>T
NM_000021.3:c.254T>C
NM_000021.3:c.286G>T
NM_000021.3:c.625G>A
NM_000021.3:c.638T>C
NM_000021.3:c.650G>A
NM_000021.3:c.748T>G
NM_000021.3:c.779C>T
NM_000021.3:c.796G>A
NM_000021.3:c.806G>A
NM_000021.3:c.818A>C
NM_000021.3:c.839A>C
NM_000021.3:c.844C>T
NM_000021.3:c.854C>T
NM_000021.3:c.856C>G
PSEN2
NM_000447.2:c.1262C>T