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: rs7157599
rs7157599
DEGS2
6 0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76 0.700 1.000 1 2013 2013
dbSNP: rs2162560
rs2162560
DNMT1
2 1.000 0.040 19 10168778 intron variant G/A snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs10073892
rs10073892
SLCO6A1
1 5 102391066 non coding transcript exon variant T/C snv 0.24 0.21 0.700 1.000 1 2014 2014
dbSNP: rs363050
rs363050
SNAP25 ; SNAP25-AS1
8 0.790 0.240 20 10253609 intron variant G/A snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs3764650
rs3764650
ABCA7
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs2973488
rs2973488
CTNND2
1 5 11043805 intron variant A/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs761715536
rs761715536
ADRA2A
3 1.000 0.040 10 111079092 stop gained G/A;T snv 6.4E-06; 1.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs16885997
rs16885997 		1 8 114496877 intergenic variant G/T snv 3.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs8191664
rs8191664
NEIL2
7 0.807 0.200 8 11786044 missense variant G/A;C;T snv 4.0E-05; 3.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2007 2019
dbSNP: rs1554950703
rs1554950703
HTRA1 ; LOC105378526
2 1.000 0.200 10 122489463 missense variant C/G snv 0.700 1.000 6 2009 2016
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.040 1.000 4 2008 2019
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 1.000 4 2008 2019
dbSNP: rs375752214
rs375752214
NOS3
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2011 2011
dbSNP: rs1206642175
rs1206642175
ESR1
3 0.925 0.080 6 151808263 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs864309520
rs864309520
ABCD1 ; BCAP31
2 1.000 0.160 X 153725917 missense variant G/C snv 0.700 0
dbSNP: rs1557136818
rs1557136818
MECP2
4 0.925 0.120 X 154031259 missense variant C/T snv 0.700 0
dbSNP: rs75548401
rs75548401
GBA
6 0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
13 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
dbSNP: rs57095329
rs57095329
MIR3142HG
25 0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs55781031
rs55781031
BCHE
3 0.925 0.080 3 165786432 intron variant A/G snv 5.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs1126680
rs1126680
BCHE
5 0.851 0.160 3 165837337 synonymous variant C/T snv 5.6E-02 5.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs796052957
rs796052957
SCN1A ; SCN1A-AS1
3 0.925 0.040 2 166054735 missense variant A/G snv 0.700 0