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: rs28357681
rs28357681
CYTB ; ND6
4 0.851 0.040 MT 14798 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs144551722
rs144551722 		4 0.851 0.040 X 43632629 intergenic variant G/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs779221554
rs779221554
GUCY2F
1 1.000 0.040 X 109430395 missense variant C/A;T snv 0.700 0
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 2006 2006
dbSNP: rs2017309
rs2017309
CHEK2
4 0.851 0.040 22 28735438 intron variant T/A snv 0.23 0.010 1.000 1 2006 2006
dbSNP: rs2235573
rs2235573
SLC16A8
4 0.882 0.040 22 38081923 synonymous variant G/A snv 0.47 0.46 0.700 1.000 1 2017 2017
dbSNP: rs2904551
rs2904551
PRODH
8 0.776 0.160 22 18918421 missense variant A/G snv 5.2E-03 2.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs6971
rs6971
TSPO
11 0.742 0.200 22 43162920 missense variant A/G snv 0.76 0.75 0.010 1.000 1 2017 2017
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs3788266
rs3788266
S100B
12 0.732 0.160 21 46606442 upstream gene variant G/A snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs74315452
rs74315452
SOD1
12 0.732 0.160 21 31667356 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs2297440
rs2297440
RTEL1 ; RTEL1-TNFRSF6B
10 0.763 0.080 20 63680946 intron variant T/C snv 0.81 0.730 1.000 5 2010 2018
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.020 1.000 2 2011 2015
dbSNP: rs1259560536
rs1259560536
ADAM33
1 1.000 0.040 20 3671756 missense variant T/C snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs6062302
rs6062302
RTEL1 ; RTEL1-TNFRSF6B
4 0.882 0.040 20 63689615 synonymous variant T/C snv 0.74 0.81 0.700 1.000 1 2015 2015
dbSNP: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs8957
rs8957
SLC2A4RG
2 0.925 0.040 20 63742354 missense variant G/T snv 0.71 0.78 0.010 1.000 1 2017 2017
dbSNP: rs757496714
rs757496714
TRIB3
1 1.000 0.040 20 388189 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2013 2016
dbSNP: rs11548193
rs11548193
BCAT2
2 0.925 0.040 19 48799813 missense variant G/A;C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2014 2014
dbSNP: rs11670188
rs11670188
BTBD2
2 0.925 0.040 19 2014038 non coding transcript exon variant A/G snv 0.16 0.010 1.000 1 2010 2010
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2014 2014
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs1982073
rs1982073
TGFB1
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.010 1.000 1 2019 2019