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: rs4888262
rs4888262
RFWD3
2 1.000 0.120 16 74636560 synonymous variant C/T snv 0.54 0.59 0.800 1.000 3 2013 2017
dbSNP: rs11205
rs11205
HSD17B4
1 1.000 0.120 5 119526018 missense variant A/G snv 0.42 0.41 0.010 1.000 1 2010 2010
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 2009 2009
dbSNP: rs2072499
rs2072499
SLC25A44
3 1.000 0.120 1 156199819 non coding transcript exon variant A/G snv 0.34 0.43 0.800 1.000 4 2013 2017
dbSNP: rs11071896
rs11071896
ZWILCH
2 1.000 0.120 15 66528912 missense variant A/G snv 0.23 0.20 0.700 1.000 1 2017 2017
dbSNP: rs2075789
rs2075789
MSH5 ; MSH5-SAPCD1 ; LOC105375020
6 0.882 0.120 6 31740551 missense variant C/T snv 0.13 9.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs745738344
rs745738344
TNF
28 0.653 0.600 6 31576786 synonymous variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs78311289
rs78311289
FGFR3
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1355972653
rs1355972653
IFNGR2
3 0.882 0.120 21 33415009 synonymous variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs4624820
rs4624820 		5 0.851 0.240 5 142302223 regulatory region variant G/A snv 0.55 0.810 1.000 6 2009 2017
dbSNP: rs210138
rs210138
BAK1 ; GGNBP1
5 0.851 0.240 6 33574761 intron variant A/G snv 0.19 0.800 1.000 5 2009 2017
dbSNP: rs995030
rs995030
KITLG
9 0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67 0.720 1.000 5 2009 2019
dbSNP: rs10510452
rs10510452 		2 1.000 0.120 3 16583541 downstream gene variant A/G snv 0.22 0.800 1.000 4 2013 2017
dbSNP: rs2720460
rs2720460
CENPE
2 1.000 0.120 4 103133529 intron variant A/G snv 0.35 0.800 1.000 4 2013 2017
dbSNP: rs3790672
rs3790672
UCK2
2 1.000 0.120 1 165904155 non coding transcript exon variant T/C snv 0.24 0.800 1.000 4 2013 2017
dbSNP: rs9905704
rs9905704
SEPTIN4-AS1
2 1.000 0.120 17 58555182 intron variant G/T snv 0.77 0.810 1.000 4 2013 2017
dbSNP: rs12699477
rs12699477
MAD1L1
2 1.000 0.120 7 1929317 intron variant T/C snv 0.28 0.800 1.000 3 2013 2017
dbSNP: rs137853078
rs137853078
STK11
3 0.925 0.120 19 1220396 missense variant G/A snv 0.700 1.000 3 1998 2008
dbSNP: rs17021463
rs17021463
HPGDS
2 1.000 0.120 4 94303661 intron variant T/G snv 0.57 0.800 1.000 3 2013 2017
dbSNP: rs2195987
rs2195987 		1 1.000 0.120 19 23966743 intergenic variant C/G;T snv 0.700 1.000 3 2015 2017
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.800 1.000 3 2013 2017
dbSNP: rs2900333
rs2900333
ATF7IP
6 0.882 0.200 12 14500933 3 prime UTR variant C/A;G;T snv 0.800 1.000 3 2013 2017
dbSNP: rs4561483
rs4561483
BCAR4
1 1.000 0.120 16 11826180 intron variant A/G;T snv 0.710 1.000 3 2015 2017
dbSNP: rs55637647
rs55637647
ZFPM1
1 1.000 0.120 16 88482856 intron variant C/G snv 0.47 0.710 1.000 3 2015 2017