Source: ALL
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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2009 2009
dbSNP: rs386747134
rs386747134
CALHM1
3 0.882 0.120 10 103458495 missense variant AGC/GGT mnv 0.100 0.933 15 2008 2016
dbSNP: rs281865161
rs281865161
APP
2 0.925 0.080 21 25897626 missense variant TC/GA mnv 0.700 1.000 3 1996 2013
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2009 2009
dbSNP: rs1365504296
rs1365504296
FCRL5
1 1.000 0.080 1 157524520 frameshift variant GGGAG/- del 0.010 1.000 1 2016 2016
dbSNP: rs1455460144
rs1455460144
CHAT
1 1.000 0.080 10 49625580 frameshift variant A/- del 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs760832624
rs760832624
CALHM1
3 0.882 0.120 10 103458488 frameshift variant CAGCGGCC/- delins 0.100 0.933 15 2008 2016
dbSNP: rs10524523
rs10524523
TOMM40
7 0.807 0.200 19 44899792 intron variant TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT delins 0.100 0.900 10 2012 2017
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.030 1.000 3 2009 2016
dbSNP: rs11568822
rs11568822
APOC1
1 1.000 0.080 19 44914381 5 prime UTR variant -/CGTT delins 0.020 1.000 2 2014 2019
dbSNP: rs28363170
rs28363170
SLC6A3
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs3216733
rs3216733
HSPA5 ; LOC107987127
3 0.882 0.240 9 125241510 upstream gene variant CC/-;C;CCC;CCCC delins 0.010 1.000 1 2008 2008
dbSNP: rs3832852
rs3832852
A2M ; KLRG1
2 0.925 0.080 12 9093581 splice acceptor variant ATGGT/- delins 0.010 1.000 1 2014 2014
dbSNP: rs397780637
rs397780637
PICK1
1 1.000 0.080 22 38057199 5 prime UTR variant G/- delins 0.010 1.000 1 2018 2018
dbSNP: rs747604554
rs747604554
FANCD2
1 1.000 0.080 3 10065441 frameshift variant TT/- delins 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1566638673
rs1566638673
PSEN1
1 1.000 0.080 14 73186881 inframe insertion -/TAT delins 0.700 0
dbSNP: rs63750264
rs63750264
APP
17 0.716 0.360 21 25891784 missense variant C/A;G;T snv 0.900 1.000 58 1991 2019
dbSNP: rs75932628
rs75932628
TREM2 ; LOC105375056
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.900 0.923 52 2013 2020
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.889 45 2004 2019
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.868 38 2004 2019
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.900 1.000 33 2009 2020
dbSNP: rs63750671
rs63750671
APP
8 0.790 0.240 21 25891858 missense variant G/C snv 0.760 1.000 26 1991 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.840 25 2000 2017
dbSNP: rs63750066
rs63750066
APP
9 0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05 0.730 1.000 25 1991 2017
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.900 0.913 23 2009 2018