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: rs11136341
rs11136341
3 8 143969375 intron variant A/G snv 0.40 0.800 1.000 3 2010 2018
dbSNP: rs11783655
rs11783655
2 8 143963405 intron variant T/A snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs55831924
rs55831924
2 8 143957800 intron variant C/T snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs7832643
rs7832643
2 8 143948489 intron variant G/A;T snv 0.46 0.700 1.000 1 2017 2017