Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2230288
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.020 1.000 2 2016 2019
dbSNP: rs34637584
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.020 1.000 2 2015 2017
dbSNP: rs371425292
rs371425292
APP
0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.020 1.000 2 2004 2012
dbSNP: rs572842823
rs572842823
APP
0.763 0.160 21 25897626 missense variant T/A;G snv
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.020 1.000 2 2004 2012
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.020 1.000 2 2015 2018
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.020 1.000 2 2015 2018
dbSNP: rs1018381
rs1018381
DTNBP1
0.882 0.040 6 15656839 intron variant G/A snv 0.16
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2009 2009
dbSNP: rs104893877
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2018 2018
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
0.732 0.160 4 89835580 missense variant C/G snv
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 < 0.001 1 2019 2019
dbSNP: rs1051266
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2014 2014
dbSNP: rs10748842
rs10748842
NRG3
0.807 0.120 10 81889983 intron variant T/C snv 0.13
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2020 2020
dbSNP: rs1108580
rs1108580
DBH
0.790 0.240 9 133639992 splice region variant A/G snv 0.45 0.54
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2018 2018
dbSNP: rs11136000
rs11136000
CLU
0.752 0.160 8 27607002 intron variant T/C snv 0.56
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2019 2019
dbSNP: rs121909668
rs121909668
FUS
0.790 0.120 16 31191418 missense variant C/A;G;T snv 1.2E-05
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2018 2018
dbSNP: rs1223904774
rs1223904774
APP
0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2004 2004
dbSNP: rs1245342105
rs1245342105
SPTBN1
1.000 0.040 2 54622367 missense variant T/C snv 4.0E-06
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2016 2016
dbSNP: rs1315695444
rs1315695444
SELP
1.000 0.040 1 169611580 missense variant C/G snv 4.0E-06 1.4E-05
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2007 2007
dbSNP: rs1329650
rs1329650
HECTD2-AS1
0.882 0.080 10 91588363 regulatory region variant G/A;T snv
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2012 2012
dbSNP: rs1386984902
rs1386984902
APP
0.790 0.160 21 26000095 missense variant G/A snv
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2016 2016
dbSNP: rs1611115
rs1611115
DBH
0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2018 2018
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2019 2019
dbSNP: rs1800557
rs1800557
APP
0.925 0.040 21 25891795 missense variant G/A snv 4.0E-05 4.2E-05
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 1994 1994
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2016 2016
dbSNP: rs1801131
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2014 2014
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2014 2014