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: rs1051861187
rs1051861187
ABCB4
6 0.827 0.080 7 87409385 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1682111
rs1682111
ACYP2
13 0.742 0.240 2 54200842 intron variant A/T snv 0.56 0.020 1.000 2 2017 2019
dbSNP: rs843645
rs843645
ACYP2
5 0.827 0.120 2 54247527 intron variant T/A;G snv 0.19 0.020 1.000 2 2017 2019
dbSNP: rs6713088
rs6713088
ACYP2
9 0.763 0.200 2 54118332 intron variant C/G snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs843711
rs843711
ACYP2
7 0.790 0.200 2 54251980 intron variant C/T snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs843720
rs843720
ACYP2 ; LOC105374610
10 0.752 0.280 2 54283523 intron variant T/G snv 0.52 0.020 1.000 2 2017 2019
dbSNP: rs843706
rs843706
ACYP2 ; TSPYL6
6 0.807 0.160 2 54253232 3 prime UTR variant C/A snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs4024
rs4024
AFP
7 0.827 0.120 4 73435667 intron variant G/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs737241
rs737241
AFP
7 0.827 0.120 4 73451012 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2015 2015
dbSNP: rs12732894
rs12732894
ARHGEF10L
3 0.882 0.080 1 17582733 intron variant G/A snv 1.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs2244444
rs2244444
ARHGEF10L
3 0.882 0.080 1 17520426 intergenic variant C/T snv 0.55 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 1.000 1 2018 2018
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2018 2018
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 0.500 2 2014 2015
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.020 1.000 2 2008 2014
dbSNP: rs187115
rs187115
CD44
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs1302103336
rs1302103336
CHEK1
12 0.776 0.120 11 125637491 missense variant T/C snv 8.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2013 2013
dbSNP: rs2227306
rs2227306
CXCL8
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs1330010954
rs1330010954
DLC1
4 0.882 0.080 8 13094897 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs372894000
rs372894000
DLC1
4 0.882 0.080 8 13092766 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs756966085
rs756966085
DLC1
4 0.882 0.080 8 13090431 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.020 1.000 2 2012 2014