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: rs1057518999
rs1057518999
1 1.000 0.040 3 70977826 splice donor variant A/G snv 0.700 0
dbSNP: rs1559619762
rs1559619762
2 1.000 0.040 3 70977827 splice donor variant C/G snv 0.700 0
dbSNP: rs112795301
rs112795301
13 0.776 0.160 3 70972634 stop gained G/A snv 0.020 1.000 2 2010 2019