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: rs1234344050
rs1234344050
COL3A1 ; LOC105373791
2 2 188984825 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs12720071
rs12720071
CNR1
7 0.807 0.200 6 88141462 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs1359880314
rs1359880314
SLC19A1
12 0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs137854438
rs137854438
FAM83H
2 1.000 0.080 8 143728570 stop gained A/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1387329667
rs1387329667
NOTCH1
2 9 136500595 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs142322800
rs142322800
FCGR3A
1 1 161548502 missense variant T/C snv 1.5E-04 5.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs1554442016
rs1554442016
TWIST1
4 0.882 0.080 7 19116972 missense variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2013 2013
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2008 2008
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2017 2017
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 2018 2018
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 2012 2012
dbSNP: rs201405525
rs201405525
DECR1
3 0.925 0.240 8 90044993 missense variant G/A;C snv 4.5E-04; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs201968272
rs201968272
DDX11
3 0.925 0.160 12 31089147 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs28939086
rs28939086
SLC26A4
4 0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs368705607
rs368705607
MIXL1
7 0.882 0.120 1 226225766 missense variant T/C;G snv 2.8E-05; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs387906617
rs387906617
CREB1
2 2 207567506 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs397514606
rs397514606
AKT3
14 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs397514698
rs397514698
GNAQ
52 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs4954218
rs4954218
MAP3K19
5 0.925 0.080 2 135045855 intron variant G/T snv 0.83 0.010 1.000 1 2012 2012
dbSNP: rs4988235
rs4988235
MCM6
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs504849
rs504849
WNT5A
1 3 55488911 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs524153
rs524153
WNT5A
1 3 55491957 upstream gene variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs527236031
rs527236031
PIGT ; MIR6812
5 0.882 0.080 20 45424323 missense variant C/T snv 1.6E-05 4.2E-05 0.010 1.000 1 2014 2014