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: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2015 2015
dbSNP: rs74315289
rs74315289
BSND
5 0.827 0.280 1 54999325 missense variant G/A snv 1.0E-04 1.5E-04 0.010 1.000 1 2011 2011
dbSNP: rs7456421
rs7456421
HIPK2
4 0.882 0.120 7 139715976 synonymous variant G/C snv 0.27 0.37 0.010 < 0.001 1 2013 2013
dbSNP: rs7493
rs7493
PON2
24 0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27 0.010 1.000 1 2006 2006
dbSNP: rs7582694
rs7582694
STAT4
9 0.763 0.400 2 191105394 intron variant C/G snv 0.77 0.010 1.000 1 2013 2013
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs867394500
rs867394500
ACE
4 0.851 0.080 17 63477301 missense variant G/T snv 0.010 1.000 1 2003 2003
dbSNP: rs137852832
rs137852832
CEP290
17 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
dbSNP: rs137852834
rs137852834
CEP290
13 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
dbSNP: rs1555487316
rs1555487316
UMOD
5 0.882 0.240 16 20348247 missense variant A/C snv 0.700 0
dbSNP: rs1569492161
rs1569492161
COL4A5
4 0.882 0.280 X 108586729 missense variant G/C snv 0.700 0
dbSNP: rs530391015
rs530391015
INF2
5 0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs118203478
rs118203478
TSC1
5 0.882 0.200 9 132911492 frameshift variant -/A;AA delins 0.700 0
dbSNP: rs1553948516
rs1553948516
SCARB2
3 0.925 0.120 4 76181009 frameshift variant -/G delins 0.700 0
dbSNP: rs886039813
rs886039813
OFD1
8 0.827 0.160 X 13756600 frameshift variant C/- delins 0.700 0
dbSNP: rs771454167
rs771454167
CEP290
6 0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05 0.700 0
dbSNP: rs1567202189
rs1567202189
PKD1
2 1.000 0.080 16 2111276 inframe insertion -/GTG ins 0.700 0