Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs79781504
rs79781504 		1 1.000 0.080 8 83837822 intergenic variant A/C snv 6.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs857551
rs857551
LOC107987301
1 1.000 0.080 21 43410112 downstream gene variant A/C snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs4147929
rs4147929
ABCA7
1 0.882 0.120 19 1063444 intron variant A/C;G snv 0.860 1.000 4 2013 2019
dbSNP: rs1859788
rs1859788
PILRA
1 0.925 0.080 7 100374211 missense variant A/C;G snv 4.0E-06; 0.65 0.720 1.000 2 2018 2019
dbSNP: rs116677506
rs116677506
B3GALT1
1 1.000 0.080 2 167746937 intergenic variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs142092405
rs142092405
BCAM
1 1.000 0.080 19 44820087 3 prime UTR variant A/C;G snv 3.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs142710255
rs142710255
LINC02008
1 1.000 0.080 3 82012036 intron variant A/C;G snv 3.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs16973424
rs16973424
ABCA8
1 1.000 0.080 17 68907860 missense variant A/C;G snv 1.1E-02; 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs283811
rs283811
NECTIN2
1 1.000 0.080 19 44885243 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs2919845
rs2919845
CEACAM19 ; LOC107985305
1 1.000 0.080 19 44677956 non coding transcript exon variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs543844
rs543844 		1 1.000 0.080 6 44457063 regulatory region variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs56157503
rs56157503 		1 1.000 0.080 11 86152038 upstream gene variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs7254723
rs7254723
CLPTM1
2 1.000 0.080 19 44952664 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs72832584
rs72832584
BCAS3
1 1.000 0.080 17 61215075 intron variant A/C;G snv 0.800 1.000 1 2014 2014
dbSNP: rs7364180
rs7364180
CCDC134
1 1.000 0.080 22 41822852 intron variant A/C;G snv 0.710 1.000 1 2011 2019
dbSNP: rs63750009
rs63750009
PSEN1
2 0.851 0.120 14 73192760 missense variant A/C;G snv 0.700 0
dbSNP: rs2965106
rs2965106 		1 1.000 0.080 19 44729108 upstream gene variant A/C;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs75885813
rs75885813
RBFOX1
1 1.000 0.080 16 7091262 intron variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10416371
rs10416371
MARK4 ; NKPD1 ; LOC105372420
1 1.000 0.080 19 45156878 intron variant A/C;T snv 0.700 1.000 2 2011 2012
dbSNP: rs11680911
rs11680911
LOC105373605
1 1.000 0.080 2 127131181 regulatory region variant A/C;T snv 0.700 1.000 2 2011 2012
dbSNP: rs387976
rs387976
NECTIN2
4 1.000 0.080 19 44875803 intron variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs9269853
rs9269853
HLA-DRB1
1 1.000 0.080 6 32582545 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2075650
rs2075650
TOMM40
25 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.900 1.000 18 2009 2020
dbSNP: rs6859
rs6859
NECTIN2
6 0.827 0.120 19 44878777 3 prime UTR variant A/G snv 0.58 0.800 1.000 13 2008 2019
dbSNP: rs8106922
rs8106922
TOMM40
5 1.000 0.080 19 44898409 intron variant A/G snv 0.36 0.800 1.000 10 2009 2019