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: rs1556411578
rs1556411578
4 X 108595507 coding sequence variant AAGGTGACA/- delins 0.700 0
dbSNP: rs267606954
rs267606954
3 1.000 0.080 10 94032007 stop gained C/T snv 2.4E-05 0.700 0
dbSNP: rs1555487316
rs1555487316
5 0.882 0.240 16 20348247 missense variant A/C snv 0.700 0
dbSNP: rs1057515576
rs1057515576
9 0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins 0.700 0
dbSNP: rs201893408
rs201893408
28 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
dbSNP: rs752362727
rs752362727
22 0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 0.700 0