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: rs2191566
rs2191566
ZNF230
2 0.925 0.200 19 44007237 intron variant G/T snv 0.62 0.800 1.000 1 2009 2009
dbSNP: rs41307935
rs41307935
ZDHHC18
3 1.000 0.120 1 26854576 3 prime UTR variant C/T snv 6.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs16754
rs16754
WT1
15 0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17 0.010 1.000 1 2015 2015
dbSNP: rs1142345
rs1142345
TPMT
9 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs79050301
rs79050301
TPMT
1 1.000 0.120 6 18151959 intron variant T/C snv 4.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs17505102
rs17505102
TP63
1 1.000 0.120 3 189683987 intron variant G/C snv 9.7E-02 0.800 1.000 1 2012 2012
dbSNP: rs186364861
rs186364861
SUCLA2 ; NUDT15
4 0.882 0.120 13 48037798 missense variant G/A snv 9.1E-04 2.4E-04 0.010 1.000 1 2016 2016
dbSNP: rs359312
rs359312
ST8SIA6
1 1.000 0.120 10 17346144 intron variant C/T snv 3.6E-02 0.700 1.000 1 2009 2009
dbSNP: rs2390536
rs2390536
SP4
1 1.000 0.120 7 21445779 intron variant G/A snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2017 2017
dbSNP: rs207954
rs207954
SLCO3A1
1 1.000 0.120 15 92114143 intron variant T/A;C;G snv 0.800 1.000 1 2012 2012
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs540476365
rs540476365
SETD2
1 1.000 0.120 3 47121125 missense variant T/C snv 0.700 1.000 2 2014 2014
dbSNP: rs780963440
rs780963440
SETD2
1 1.000 0.120 3 47123960 missense variant G/A;C snv 5.0E-05; 1.3E-05 0.700 1.000 2 2014 2014
dbSNP: rs1478147351
rs1478147351
SETD2
1 1.000 0.120 3 47101485 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs186148199
rs186148199
SETD2
1 1.000 0.120 3 47123837 missense variant C/T snv 8.9E-05 3.5E-05 0.700 0
dbSNP: rs188887061
rs188887061
SETD2
1 1.000 0.120 3 47122353 missense variant C/T snv 4.2E-04 7.0E-05 0.700 0
dbSNP: rs936094
rs936094
RXFP1
1 1.000 0.120 4 158523162 intron variant T/A;C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs7142143
rs7142143
PYGL
1 1.000 0.120 14 50936813 intron variant T/C snv 2.8E-02 0.800 1.000 1 2012 2012
dbSNP: rs3942852
rs3942852
PTPRJ
1 1.000 0.120 11 48093537 intron variant C/T snv 0.69 0.800 1.000 1 2012 2012
dbSNP: rs397507520
rs397507520
PTPN11
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs738408
rs738408
PNPLA3
10 0.925 0.120 22 43928850 synonymous variant C/T snv 0.28 0.22 0.700 1.000 1 2017 2017
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.700 1.000 1 2017 2017
dbSNP: rs11013046
rs11013046
PIP4K2A
1 1.000 0.120 10 22551654 intron variant C/T snv 0.55 0.700 1.000 1 2013 2013