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: rs781049584
rs781049584
APP
18 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 < 0.001 1 2014 2014
dbSNP: rs9344
rs9344
CCND1
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.010 1.000 1 2016 2016
dbSNP: rs9568036
rs9568036
RB1 ; LPAR6
2 1.000 0.080 13 48397800 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2015 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2010 2016
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2012 2016
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2010 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2010 2016
dbSNP: rs1801270
rs1801270
CDKN1A
22 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 0.030 1.000 3 2013 2018
dbSNP: rs937283
rs937283
MDM2
19 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 0.030 1.000 3 2016 2018
dbSNP: rs200844292
rs200844292
RB1 ; LOC112268118
1 1.000 0.080 13 48364961 missense variant G/A snv 3.7E-04 2.8E-04 0.700 1.000 19 1989 2017
dbSNP: rs767011440
rs767011440
RB1 ; LOC112268118
1 1.000 0.080 13 48368550 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 19 1989 2017
dbSNP: rs1131690863
rs1131690863
RB1
2 1.000 0.080 13 48362847 stop gained C/T snv 0.700 1.000 10 1994 2016
dbSNP: rs121913301
rs121913301
RB1 ; LOC112268118
2 1.000 0.080 13 48368549 stop gained C/T snv 0.700 1.000 8 1995 2016
dbSNP: rs587778850
rs587778850
RB1
2 1.000 0.080 13 48473391 splice donor variant G/A;T snv 0.700 1.000 8 2003 2017
dbSNP: rs121913300
rs121913300
RB1 ; LOC112268118
2 1.000 0.080 13 48367512 stop gained C/G;T snv 1.2E-05 0.700 1.000 7 1994 2017
dbSNP: rs3092891
rs3092891
RB1 ; LOC112268118
2 1.000 0.080 13 48379594 stop gained C/T snv 4.0E-06 0.700 1.000 7 1989 2016
dbSNP: rs121913303
rs121913303
RB1 ; LOC112268118
2 1.000 0.080 13 48381402 stop gained C/T snv 0.700 1.000 6 1994 2016
dbSNP: rs3092902
rs3092902
RB1
1 1.000 0.080 13 48345110 missense variant A/T snv 3.4E-04 3.9E-04 0.700 1.000 6 2004 2017
dbSNP: rs137853293
rs137853293
RB1
2 1.000 0.080 13 48465238 stop gained C/T snv 0.700 1.000 5 1989 2015
dbSNP: rs1566234123
rs1566234123
RB1
1 1.000 0.080 13 48456342 frameshift variant -/A delins 0.700 1.000 5 2005 2015
dbSNP: rs587776787
rs587776787
RB1
1 1.000 0.080 13 48463835 missense variant G/A;T snv 0.700 1.000 5 1997 2012
dbSNP: rs587778842
rs587778842
RB1
2 1.000 0.080 13 48362859 stop gained C/T snv 0.700 1.000 5 1994 2016
dbSNP: rs1131690882
rs1131690882
RB1
2 1.000 0.080 13 48465112 splice donor variant G/A;C snv 0.700 1.000 4 2005 2017