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: rs121434229
rs121434229
2 0.925 0.200 1 209801280 missense variant C/T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs121434230
rs121434230
2 0.925 0.200 1 209788638 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs2235371
rs2235371
11 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs2235375
rs2235375
7 0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 0.010 1.000 1 2015 2015
dbSNP: rs387906921
rs387906921
2 0.925 0.240 21 41743950 stop gained G/A;T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs534391501
rs534391501
2 0.925 0.200 1 24334661 missense variant G/A snv 3.1E-04 1.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs539075
rs539075
1 1.000 0.200 18 28033475 intron variant T/G snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs642961
rs642961
14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.010 1.000 1 2014 2014
dbSNP: rs770182236
rs770182236
2 0.925 0.200 17 51155707 missense variant G/A snv 6.4E-05 7.0E-06 0.010 1.000 1 2017 2017