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: rs1057518926
rs1057518926
5 0.925 0.120 3 70977675 missense variant G/C snv 0.700 0
dbSNP: rs1559602356
rs1559602356
3 1.000 3 70972577 stop gained G/A snv 0.700 0
dbSNP: rs1559619762
rs1559619762
2 1.000 0.040 3 70977827 splice donor variant C/G snv 0.700 0