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: rs10136427
rs10136427
LOC105370572
2 0.925 14 75513546 intergenic variant C/T snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2015 2015
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2014 2014
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2014 2014
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs10808556
rs10808556
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
2 0.925 0.080 8 127400902 non coding transcript exon variant C/T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs10877012
rs10877012
CYP27B1 ; METTL1
10 0.763 0.280 12 57768302 intron variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs11175834
rs11175834
LOC100507065 ; LINC02454
2 0.925 0.080 12 65598856 intron variant C/T snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs11214077
rs11214077
SDHD ; TIMM8B
12 0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 10 2008 2019
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs116909374
rs116909374 		11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.020 < 0.001 2 2016 2016
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 2011 2012
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 10 2008 2019
dbSNP: rs1220597
rs1220597
SPATA13
2 0.925 13 24243875 intron variant C/T snv 0.51 0.010 1.000 1 2014 2014
dbSNP: rs12794714
rs12794714
CYP2R1
15 0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35 0.010 1.000 1 2012 2012
dbSNP: rs12885300
rs12885300
DIO2 ; DIO2-AS1
7 0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs12990503
rs12990503
DIRC3
2 0.925 0.080 2 217429494 intron variant C/G snv 0.64 0.700 1.000 1 2017 2017
dbSNP: rs1302723597
rs1302723597
GGCT
1 1.000 7 30497778 missense variant A/C;G snv 8.1E-06; 8.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs13184587
rs13184587
ARSB
2 0.925 5 78910960 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.020 0.500 2 2011 2013
dbSNP: rs16962916
rs16962916 		2 0.925 16 13806476 intergenic variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs17739370
rs17739370 		2 0.925 4 177374275 intergenic variant C/T snv 0.38 0.010 1.000 1 2016 2016
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 < 0.001 1 2014 2014