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: rs4807542
rs4807542
GPX4
3 1.000 0.120 19 1104079 synonymous variant G/A;C snv 0.22; 1.8E-05 0.700 1.000 1 2019 2019
dbSNP: rs74767530
rs74767530
CFTR
5 0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05 0.010 1.000 1 1993 1993
dbSNP: rs34210653
rs34210653
ALOX15
8 0.807 0.280 17 4632019 missense variant G/A snv 2.7E-02 1.7E-02 0.710 1.000 1 2019 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 1.000 2 2009 2018
dbSNP: rs828618
rs828618
DCBLD2
2 0.925 0.160 3 98822789 intron variant G/A snv 0.28 0.22 0.010 1.000 1 2012 2012
dbSNP: rs1050152
rs1050152
SLC22A4 ; MIR3936HG
10 0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28 0.700 1.000 1 2019 2019
dbSNP: rs1420101
rs1420101
IL18R1 ; IL1RL1
8 0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35 0.710 0.500 2 2010 2019
dbSNP: rs174535
rs174535
MYRF ; TMEM258
19 0.776 0.280 11 61783884 missense variant T/A;C;G snv 0.38 0.32 0.700 1.000 1 2019 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2017 2017