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: rs3746951
rs3746951
SIK1
1 1.000 0.040 21 43426136 missense variant C/A;T snv 0.23 0.020 1.000 2 2017 2019
dbSNP: rs487119
rs487119
SLC8A1
1 1.000 0.040 2 40261737 intron variant G/A snv 0.54 0.020 1.000 2 2017 2019
dbSNP: rs1052571
rs1052571
CASP9
4 0.882 0.080 1 15524118 missense variant G/A snv 0.50 0.59 0.010 1.000 1 2019 2019
dbSNP: rs11096955
rs11096955
TLR10
5 0.851 0.200 4 38774486 missense variant T/C;G snv 4.3E-06; 0.41 0.010 1.000 1 2013 2013
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 2013 2013
dbSNP: rs1274867386
rs1274867386
HMX2
1 1.000 0.040 10 123150118 missense variant T/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1387153
rs1387153 		10 0.807 0.200 11 92940662 downstream gene variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs17173510
rs17173510
KCNE1
1 1.000 0.040 21 34449551 synonymous variant C/G;T snv 4.0E-06; 3.6E-03 6.6E-03 0.010 1.000 1 2016 2016
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2013 2013
dbSNP: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2011 2011
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2013 2013
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 2013 2013
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2013 2013
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2011 2011
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2013 2013
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2013 2013
dbSNP: rs1805127
rs1805127
KCNE1
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.010 1.000 1 2012 2012
dbSNP: rs2075575
rs2075575
AQP4 ; AQP4-AS1
5 0.851 0.200 18 26866562 intron variant G/A snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs2234688
rs2234688
IFNG ; IFNG-AS1
1 1.000 0.040 12 68158742 intron variant -/G;TGAG;TGG;TGTGG;TGTGTGAG;TGTGTGG;TGTGTGTGG delins 0.010 1.000 1 2013 2013
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2013 2013
dbSNP: rs2288904
rs2288904
SLC44A2
8 0.807 0.240 19 10631494 missense variant A/G snv 0.80 0.83 0.010 1.000 1 2016 2016
dbSNP: rs2682826
rs2682826
NOS1
11 0.807 0.280 12 117215033 3 prime UTR variant G/A snv 0.25 0.010 1.000 1 2011 2011
dbSNP: rs28357984
rs28357984
COX1 ; ND2
6 0.851 0.160 MT 5178 missense variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs3087969
rs3087969
SLC44A2
1 1.000 0.040 19 10627963 missense variant C/G;T snv 4.0E-06; 0.79 0.010 1.000 1 2016 2016
dbSNP: rs3736309
rs3736309
AQP5 ; LOC101927318 ; LOC105369764
2 0.925 0.120 12 49964271 intron variant A/G snv 0.12 0.010 1.000 1 2013 2013