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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2008 2013
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 2019 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.040 1.000 4 2006 2019
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2005 2005
dbSNP: rs238406
rs238406
ERCC2
23 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 0.010 1.000 1 2019 2019
dbSNP: rs121908120
rs121908120
WNT10A
19 0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02 0.700 0
dbSNP: rs9282858
rs9282858
SRD5A2
16 0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02 0.710 1.000 2 2007 2017
dbSNP: rs116855232
rs116855232
NUDT15
12 0.742 0.400 13 48045719 missense variant C/T snv 2.8E-02 1.1E-02 0.750 1.000 5 2016 2018
dbSNP: rs180177035
rs180177035
BRAF
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
dbSNP: rs2294020
rs2294020
CCDC22
10 0.763 0.280 X 49246763 missense variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs6152
rs6152
AR
9 0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28 0.010 1.000 1 2007 2007
dbSNP: rs1057517491
rs1057517491
GJB2
8 0.776 0.240 13 20189448 frameshift variant C/- delins 0.010 1.000 1 2011 2011
dbSNP: rs201249971
rs201249971
LIPH
8 0.776 0.120 3 185519292 missense variant A/T snv 1.6E-04 4.9E-05 0.010 1.000 1 2017 2017
dbSNP: rs5934505
rs5934505 		10 0.776 0.120 X 8945785 intergenic variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs12373124
rs12373124
SPPL2C ; MAPT-AS1
9 0.790 0.120 17 45846853 synonymous variant T/C snv 0.15 0.14 0.700 1.000 1 2017 2017
dbSNP: rs72561723
rs72561723
GJB2
7 0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs10502861
rs10502861
SLC14A2
7 0.807 0.080 18 45220183 intron variant C/T snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs10888690
rs10888690
FAF1
7 0.807 0.080 1 50494849 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs10930758
rs10930758 		7 0.807 0.080 2 176897100 intergenic variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11037975
rs11037975 		7 0.807 0.080 11 44389312 intergenic variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs111668293
rs111668293
TBX15
7 0.807 0.080 1 118896200 intron variant G/- del 0.12 0.700 1.000 1 2017 2017