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: rs1131692181
rs1131692181
CTNNB1
2 0.925 0.040 3 41234286 stop gained C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 < 0.001 1 2015 2015
dbSNP: rs1375012922
rs1375012922
DSG2
1 1.000 0.040 18 31538771 stop gained C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2017 2017
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs4522461
rs4522461
ARRB2
2 0.925 0.120 17 4718478 intron variant T/G snv 0.82 0.010 1.000 1 2018 2018
dbSNP: rs4790694
rs4790694 		3 0.882 0.160 17 4723059 downstream gene variant A/C snv 0.73 0.010 1.000 1 2018 2018