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: rs35106244
rs35106244
2 19 48700572 intron variant C/T snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs601338
rs601338
19 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.010 1.000 1 2019 2019