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: rs7105934
rs7105934
LOC102724265
5 0.827 0.120 11 69424973 upstream gene variant G/A;C snv 0.830 1.000 7 2011 2019
dbSNP: rs718314
rs718314
LOC105369705
6 0.882 0.120 12 26300350 intron variant A/G snv 0.27 0.840 0.833 6 2012 2019
dbSNP: rs149617956
rs149617956
MITF
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.050 0.800 5 2011 2019
dbSNP: rs7579899
rs7579899
EPAS1
2 0.925 0.120 2 46310465 intron variant A/G snv 0.52 0.830 1.000 5 2011 2019
dbSNP: rs1049380
rs1049380
ITPR2
5 0.827 0.120 12 26336611 3 prime UTR variant G/T snv 0.69 0.820 1.000 4 2012 2019
dbSNP: rs11894252
rs11894252
EPAS1
3 0.925 0.120 2 46306237 intron variant T/A;C;G snv 0.810 1.000 4 2011 2019
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.030 1.000 3 2016 2019
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.030 0.667 3 2008 2019
dbSNP: rs4778889
rs4778889
IL16
24 0.683 0.480 15 81296654 intron variant T/C snv 0.24 0.030 0.667 3 2015 2019
dbSNP: rs11556218
rs11556218
IL16
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.020 0.500 2 2016 2019
dbSNP: rs2121266
rs2121266
EPAS1
1 1.000 0.120 2 46308785 intron variant C/A snv 0.61 0.800 1.000 2 2011 2019
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.020 0.500 2 2016 2019
dbSNP: rs4903064
rs4903064
DPF3
2 0.925 0.120 14 72812712 intron variant T/C snv 0.23 0.710 1.000 2 2017 2019
dbSNP: rs1010980331
rs1010980331
MPRIP ; FLCN
2 0.925 0.120 17 17215072 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs10484683
rs10484683
SAMD5
1 1.000 0.120 6 147830941 intron variant A/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs11203289
rs11203289
SDHB
3 0.882 0.240 1 17054012 missense variant G/A;C snv 4.1E-06; 3.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs1131690838
rs1131690838
FLCN
3 0.925 0.120 17 17228135 frameshift variant C/- del 0.010 1.000 1 2019 2019
dbSNP: rs1131691061
rs1131691061
SDHB
6 0.827 0.280 1 17054017 start lost C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs13027293
rs13027293
STEAP3
1 1.000 0.120 2 119243542 intron variant G/T snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs1312268347
rs1312268347
SARDH
4 0.925 0.120 9 133734172 start lost A/G snv 5.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1417080
rs1417080 		2 0.925 0.120 9 79515946 non coding transcript exon variant T/C snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs1449964136
rs1449964136
MITF
2 0.925 0.120 3 69936725 start lost G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 < 0.001 1 2019 2019
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 < 0.001 1 2019 2019
dbSNP: rs4787951
rs4787951
IL4R
2 0.925 0.120 16 27332642 intron variant T/C snv 0.29 0.010 1.000 1 2019 2019