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: rs1057520018
rs1057520018
STK11
6 0.807 0.080 19 1223124 missense variant T/C snv 0.010 1.000 1 2015 2015
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 2015 2015
dbSNP: rs121913375
rs121913375
BRAF
7 0.851 0.240 7 140753339 missense variant G/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2018 2018
dbSNP: rs34330
rs34330
CDKN1B ; GPR19
15 0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70 0.010 1.000 1 2010 2010
dbSNP: rs59912467
rs59912467
STK11
7 0.790 0.120 19 1223126 missense variant C/G;T snv 5.2E-03; 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs780294601
rs780294601
PPARG
4 0.851 0.080 3 12416967 missense variant G/C snv 4.4E-05 1.4E-05 0.010 1.000 1 2015 2015