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: rs1567728636
rs1567728636
1 1.000 0.120 17 35107365 splice donor variant C/T snv 0.700 0
dbSNP: rs587780104
rs587780104
4 0.882 0.200 17 35103298 stop gained G/A;C;T snv 1.2E-05 0.700 0
dbSNP: rs781161543
rs781161543
2 0.925 0.120 17 35106385 splice donor variant C/T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs876658297
rs876658297
3 0.925 0.120 17 35107108 frameshift variant TACA/- delins 7.0E-06 0.700 0