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: rs1564554255
rs1564554255
1 9 72788399 stop gained G/A snv 0.700 0
dbSNP: rs1564555240
rs1564555240
1 9 72789319 splice donor variant T/C snv 0.700 0
dbSNP: rs761261855
rs761261855
1 9 72816175 missense variant C/G;T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs773851192
rs773851192
1 9 72789302 stop gained G/A;C snv 4.0E-06 0.700 0