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: rs137941190
rs137941190
1 1.000 11 126345546 missense variant C/G;T snv 1.2E-03 0.800 0
dbSNP: rs1057519083
rs1057519083
1 1.000 11 126304283 splice donor variant T/C snv 0.700 0
dbSNP: rs770528538
rs770528538
1 1.000 11 126338400 splice donor variant G/A;T snv 4.0E-06 0.700 0