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: rs1564045331
rs1564045331
XPA
35 0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 0.700 0
dbSNP: rs778543124
rs778543124
XPA
35 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
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 2016 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2016 2016
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1393350
rs1393350
TYR ; LOC107984363
7 0.851 0.160 11 89277878 intron variant G/A snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs139810560
rs139810560 		1 1.000 0.080 16 89945331 upstream gene variant C/A snv 5.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs7164132
rs7164132
KNSTRN
2 0.925 0.080 15 40382954 missense variant C/A snv 9.2E-02 8.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs7208422
rs7208422
TMC8
6 0.807 0.120 17 78134494 missense variant A/C;T snv 4.0E-06; 0.51 0.010 1.000 1 2015 2015
dbSNP: rs773553186
rs773553186
TP53
1 1.000 0.080 17 7670636 missense variant T/A snv 2.0E-05 2.1E-05 0.010 1.000 1 2008 2008