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: rs10407968
rs10407968
1 1.000 0.040 19 917526 synonymous variant A/G snv 0.16 0.18 0.010 1.000 1 2014 2014
dbSNP: rs121908499
rs121908499
3 0.882 0.040 19 920708 missense variant G/C snv 1.2E-04 8.6E-04 0.010 1.000 1 2008 2008
dbSNP: rs314280
rs314280
3 0.925 0.040 6 104952962 intron variant A/G snv 0.46 0.010 1.000 1 2016 2016
dbSNP: rs375705600
rs375705600
2 0.925 0.040 15 23566816 missense variant G/A snv 2.0E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs7759938
rs7759938
7 0.925 0.120 6 104931079 intron variant C/T snv 0.62 0.010 1.000 1 2016 2016