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: rs1297857806
rs1297857806
1 3 50342917 splice donor variant C/T snv 4.0E-06 0.700 1.000 2 2013 2013
dbSNP: rs138815960
rs138815960
3 0.925 0.160 3 50345533 splice donor variant A/C snv 2.7E-04 2.1E-04 0.700 1.000 2 2013 2013
dbSNP: rs200913791
rs200913791
3 0.925 0.160 3 50342473 missense variant A/G snv 2.0E-04 3.5E-05 0.700 1.000 1 2013 2013
dbSNP: rs587621539
rs587621539
1 1.000 3 50345495 missense variant A/G snv 2.2E-05 9.8E-05 0.700 1.000 1 2013 2013