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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.909 11 2000 2019
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.030 1.000 3 2014 2020
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.020 1.000 2 2014 2014
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 2013 2014
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 2007 2017
dbSNP: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.020 1.000 2 2016 2019
dbSNP: rs77369218
rs77369218
GBA
7 0.807 0.160 1 155235726 missense variant T/A snv 0.020 1.000 2 2013 2019
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2011 2011
dbSNP: rs112422930
rs112422930
MUTYH
4 0.882 0.160 1 45332409 missense variant A/C snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs115199861
rs115199861
PFN1P1
1 1.000 0.040 1 171670879 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs115700680
rs115700680 		1 1.000 0.040 1 171381070 intergenic variant T/G snv 1.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs115764752
rs115764752
LOC105371614
1 1.000 0.040 1 171778066 upstream gene variant T/C snv 7.9E-03 0.700 1.000 1 2015 2015
dbSNP: rs116065238
rs116065238 		1 1.000 0.040 1 171482283 upstream gene variant A/G snv 4.3E-03 0.700 1.000 1 2015 2015
dbSNP: rs12752888
rs12752888
LINC02784
4 0.851 0.160 1 54527266 downstream gene variant T/C snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs1315695444
rs1315695444
SELP
2 1.000 0.040 1 169611580 missense variant C/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs1625579
rs1625579
MIR137HG
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.010 1.000 1 2014 2014
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1805054
rs1805054
HTR6
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.010 1.000 1 2004 2004
dbSNP: rs28936379
rs28936379
PSEN2
10 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs3219484
rs3219484
MUTYH
7 0.807 0.160 1 45334484 missense variant C/A;T snv 4.8E-02 4.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs3219489
rs3219489
MUTYH
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.010 1.000 1 2011 2011
dbSNP: rs3818361
rs3818361
CR1
6 0.851 0.080 1 207611623 intron variant A/G snv 0.74 0.010 1.000 1 2014 2014
dbSNP: rs387906315
rs387906315
GBA
8 0.790 0.160 1 155240660 frameshift variant -/C delins 5.2E-05 5.6E-05 0.010 1.000 1 2020 2020
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2020 2020
dbSNP: rs55961051
rs55961051
HP1BP3
1 1.000 0.040 1 20772323 intron variant G/A snv 5.5E-03 0.700 1.000 1 2015 2015