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: rs10942549
rs10942549
1 5 73130310 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs151305324
rs151305324
3 1.000 0.040 5 73123606 missense variant G/A snv 6.8E-05; 8.0E-06 9.1E-05 0.700 1.000 1 2018 2018