PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17125721
rs17125721
0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
Nervous System Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs63750311
rs63750311
0.790 0.240 14 73192647 missense variant A/C snv
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs63751068
rs63751068
0.827 0.120 14 73186920 missense variant G/C;T snv
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
Nervous System Diseases 0.010 1.000 1 2004 2004