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: rs57633992
rs57633992
1 11 64657495 intron variant C/A;T snv 0.700 1.000 2 2018 2019
dbSNP: rs7117423
rs7117423
3 0.925 0.120 11 64657648 intron variant G/C;T snv 0.700 1.000 1 2009 2009