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: rs1799732
rs1799732
DRD2 ; LOC105369501
11 0.790 0.160 11 113475529 intron variant -/G delins 0.010 1.000 1 2013 2013
dbSNP: rs28933088
rs28933088
KRT17
2 0.925 0.080 17 41624218 missense variant A/C snv 0.010 1.000 1 1997 1997
dbSNP: rs627928
rs627928
RNASEL
10 0.790 0.080 1 182582202 missense variant A/C snv 0.54 0.49 0.010 1.000 1 2006 2006
dbSNP: rs63750416
rs63750416
MAPT
7 0.851 0.120 17 46010373 missense variant A/C snv 0.010 1.000 1 2001 2001
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.030 1.000 3 2006 2019
dbSNP: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs767543900
rs767543900
MAPT
10 0.790 0.120 17 45971879 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs80357033
rs80357033
BRCA1
2 0.925 0.200 17 43106467 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs879254382
rs879254382
LDLR
3 0.882 0.080 19 11089549 start lost A/C;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2682818
rs2682818
LIN7A ; MIR618 ; LOC105369869
14 0.742 0.320 12 80935757 non coding transcript exon variant A/C;T snv 0.83 0.010 1.000 1 2016 2016
dbSNP: rs80265967
rs80265967
SOD1
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 1996 1996
dbSNP: rs993022333
rs993022333
KIT
5 0.851 0.080 4 54733173 missense variant A/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.030 1.000 3 2012 2016
dbSNP: rs3803662
rs3803662
CASC16
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.020 1.000 2 2014 2016
dbSNP: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.020 0.500 2 2013 2013
dbSNP: rs10993994
rs10993994
MSMB
15 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 0.010 1.000 1 2009 2009
dbSNP: rs11871753
rs11871753
BRIP1
4 0.851 0.120 17 61779284 intron variant A/G snv 0.75 0.010 1.000 1 2018 2018
dbSNP: rs1199893366
rs1199893366
TP53
2 0.925 0.080 17 7674968 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.010 < 0.001 1 2007 2007
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs121918075
rs121918075
TTR
15 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs121918098
rs121918098
TTR
7 0.807 0.200 18 31592939 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs13387042
rs13387042
LOC101928278 ; LOC105373874
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs139315125
rs139315125
PER3
7 0.851 0.080 1 7809900 missense variant A/G snv 5.6E-03 5.0E-03 0.010 1.000 1 2016 2016