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: rs568645819
rs568645819
SBF2
2 11 10228118 intron variant TTGT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs34858804
rs34858804
MITF
2 3 69756466 intron variant TT/-;T;TTT;TTTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs576195416
rs576195416
EGLN1
1 1 231374522 intron variant TT/-;T;TTT;TTTT;TTTTTTTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs495828
rs495828 		24 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 0.700 1.000 2 2010 2017
dbSNP: rs1331309
rs1331309
HBS1L
2 6 135085040 intron variant T/G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs2968478
rs2968478 		4 16 88792238 intergenic variant T/G snv 0.61 0.700 1.000 1 2016 2016
dbSNP: rs56235845
rs56235845
RGS14
2 5 177371039 splice region variant T/G snv 0.36 0.42 0.700 1.000 1 2016 2016
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2016 2016
dbSNP: rs62160676
rs62160676
MIR4435-2HG
5 2 111410354 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs10224210
rs10224210
PRKAG2
9 1.000 0.040 7 151716108 intron variant T/C snv 0.21 0.700 1.000 2 2016 2017
dbSNP: rs2413450
rs2413450
TMPRSS6
6 22 37074184 intron variant T/C snv 0.61 0.800 1.000 2 2009 2017
dbSNP: rs1010553
rs1010553
STAB1
2 1.000 0.080 3 52506757 synonymous variant T/C snv 0.53 0.59 0.700 1.000 1 2016 2016
dbSNP: rs10401969
rs10401969
SUGP1
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs10953299
rs10953299
ACTL6B
1 7 100645788 intron variant T/C snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs12509595
rs12509595 		10 1.000 0.080 4 80261400 intergenic variant T/C snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs128494
rs128494
CLDN14 ; LOC105369301
4 21 36461960 intron variant T/C snv 0.72 0.700 1.000 1 2016 2016
dbSNP: rs1320959
rs1320959 		3 6 135116248 regulatory region variant T/C snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs17287978
rs17287978 		3 6 43973400 intergenic variant T/C snv 3.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs174547
rs174547
FADS1 ; FADS2
33 0.742 0.240 11 61803311 intron variant T/C snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs17476364
rs17476364
HK1
8 10 69334748 intron variant T/C snv 6.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs2032314
rs2032314
LOC105372790
2 21 33982222 downstream gene variant T/C snv 0.86 0.700 1.000 1 2012 2012
dbSNP: rs2074755
rs2074755
BAZ1B
20 0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs222826
rs222826 		16 0.851 0.120 2 146120964 regulatory region variant T/C snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs2241388
rs2241388
ZC3H4
2 19 47069730 intron variant T/C snv 0.62 0.700 1.000 1 2016 2016
dbSNP: rs2519093
rs2519093
ABO
16 0.882 0.200 9 133266456 intron variant T/C snv 0.700 1.000 1 2018 2018