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: rs28940297
rs28940297
VHL
4 0.882 0.240 3 10149811 missense variant T/C;G snv 0.700 1.000 1 2002 2002
dbSNP: rs104893751
rs104893751
OGG1
5 0.882 0.240 3 9750423 missense variant G/A;C snv 2.2E-03; 4.0E-06 0.700 0
dbSNP: rs137853236
rs137853236
HNF1A
6 0.807 0.280 12 120997504 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs137853247
rs137853247
HNF1A ; HNF1A-AS1
5 0.851 0.200 12 120978860 missense variant G/A;C snv 7.7E-04; 4.0E-06 0.700 0
dbSNP: rs1397145500
rs1397145500
ERN1
1 1.000 0.120 17 64066782 missense variant T/C snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs147608663
rs147608663
RIOK2 ; LIX1-AS1
1 1.000 0.120 5 97171338 missense variant A/G snv 2.8E-05; 8.1E-06 4.9E-05 0.700 0
dbSNP: rs1555212014
rs1555212014
HNF1A
6 0.807 0.280 12 120994264 missense variant C/T snv 0.700 0
dbSNP: rs372947534
rs372947534
FLT4
1 1.000 0.120 5 180626237 missense variant G/A snv 4.0E-05 6.3E-05 0.700 0
dbSNP: rs397516440
rs397516440
VHL
4 0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06 0.700 0
dbSNP: rs5030820
rs5030820
VHL
6 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs587776825
rs587776825
HNF1A
5 0.827 0.280 12 120994315 frameshift variant C/-;CC;CCC delins 0.700 0
dbSNP: rs587782274
rs587782274
ATM ; C11orf65
1 1.000 0.120 11 108312465 missense variant A/C snv 0.700 0
dbSNP: rs754729248
rs754729248
HNF1A
6 0.807 0.280 12 120996568 missense variant C/A;G;T snv 2.4E-05; 1.9E-04; 3.6E-05 0.700 0
dbSNP: rs758175953
rs758175953
FLCN
6 0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05 0.700 0
dbSNP: rs78683075
rs78683075
FLCN
1 1.000 0.120 17 17222565 missense variant G/A snv 2.6E-04 2.4E-04 0.700 0
dbSNP: rs864321679
rs864321679
PBRM1 ; SMIM4
1 1.000 0.120 3 52563364 frameshift variant CACTATCT/- delins 0.700 0
dbSNP: rs876658517
rs876658517
ATM ; C11orf65
1 1.000 0.120 11 108327735 missense variant A/G;T snv 0.700 0
dbSNP: rs879255678
rs879255678
MPRIP ; FLCN
6 0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 0.700 0
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: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.040 0.750 4 2017 2018
dbSNP: rs718314
rs718314
LOC105369705
6 0.882 0.120 12 26300350 intron variant A/G snv 0.27 0.040 0.750 4 2012 2016
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: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.030 1.000 3 2008 2018
dbSNP: rs11762213
rs11762213
MET
2 0.925 0.120 7 116699228 synonymous variant G/A snv 3.3E-02 3.3E-02 0.030 1.000 3 2013 2016