PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Alzheimer disease, familial, type 3 ×
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: rs63751144
rs63751144 		1.000 0.080 14 73186892 missense variant C/A snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.800 0
dbSNP: rs63751272
rs63751272 		1.000 0.080 14 73173587 missense variant A/C;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.800 0
dbSNP: rs281875357
rs281875357 		1.000 0.080 14 73219185 missense variant GC/TG mnv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63749806
rs63749806 		0.827 0.080 14 73186902 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63749835
rs63749835 		0.851 0.080 14 73192799 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63749880
rs63749880 		0.925 0.080 14 73192720 missense variant G/A snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63749937
rs63749937 		0.925 0.080 14 73198105 missense variant C/G;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750761
rs63750761 		1.000 0.080 14 73192751 missense variant T/C;G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750799
rs63750799 		1.000 0.080 14 73192787 missense variant C/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750800
rs63750800 		0.882 0.080 14 73173585 missense variant G/A snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750831
rs63750831 		1.000 0.080 14 73170989 missense variant G/A snv 8.0E-06
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750852
rs63750852 		0.790 0.120 14 73170998 missense variant G/A;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750858
rs63750858 		1.000 0.080 14 73192804 missense variant T/A;C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750861
rs63750861 		1.000 0.080 14 73192732 missense variant A/C;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750883
rs63750883 		1.000 0.080 14 73217165 missense variant G/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750907
rs63750907 		0.807 0.120 14 73173667 missense variant C/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750929
rs63750929 		0.882 0.080 14 73217177 missense variant G/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750941
rs63750941 		1.000 0.080 14 73211907 missense variant C/A snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750963
rs63750963 		0.925 0.080 14 73186884 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750964
rs63750964 		1.000 0.080 14 73198042 missense variant G/C;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63751019
rs63751019 		0.925 0.080 14 73198066 missense variant C/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63751024
rs63751024 		0.851 0.120 14 73192793 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63751068
rs63751068 		0.827 0.120 14 73186920 missense variant G/C;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63751102
rs63751102 		1.000 0.080 14 73198049 missense variant G/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63751106
rs63751106 		0.827 0.080 14 73173643 missense variant T/A;C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0