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: rs2303790
rs2303790
19 0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 0.710 1.000 4 1990 2002
dbSNP: rs142459781
rs142459781
1 1.000 16 56973475 missense variant C/T snv 8.0E-05 1.3E-04 0.700 1.000 3 1990 2002
dbSNP: rs1567476573
rs1567476573
1 1.000 16 56982238 splice donor variant -/T delins 0.700 0
dbSNP: rs5742907
rs5742907
1 1.000 16 56982238 splice donor variant G/A;T snv 1.6E-05 0.700 0