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: rs1555765564
rs1555765564
1 1.000 0.200 19 43526628 splice donor variant T/C snv 0.800 1.000 3 2004 2012
dbSNP: rs761827730
rs761827730
1 1.000 0.200 19 43526609 frameshift variant CT/- delins 1.2E-05 7.0E-06 0.700 1.000 5 2004 2018
dbSNP: rs1555765524
rs1555765524
1 1.000 0.200 19 43526514 splice donor variant C/A snv 0.700 1.000 2 2004 2009
dbSNP: rs119103249
rs119103249
1 1.000 0.200 19 43527175 start lost C/A;T snv 7.5E-06 0.700 0
dbSNP: rs1211555765
rs1211555765
1 1.000 0.200 19 43527256 intron variant CGGGG/-;CGGGGCGGGG delins 0.700 0
dbSNP: rs1555765481
rs1555765481
1 1.000 0.200 19 43526346 frameshift variant T/- delins 0.700 0
dbSNP: rs1555765528
rs1555765528
1 1.000 0.200 19 43526518 frameshift variant -/T ins 0.700 0
dbSNP: rs1555765689
rs1555765689
1 1.000 0.200 19 43527112 frameshift variant G/- delins 0.700 0
dbSNP: rs1555765701
rs1555765701
1 1.000 0.200 19 43527144 stop gained G/A snv 0.700 0
dbSNP: rs182983506
rs182983506
1 1.000 0.200 19 43526577 missense variant A/G snv 0.700 0
dbSNP: rs368778231
rs368778231
1 1.000 0.200 19 43526554 stop gained G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs749803238
rs749803238
1 1.000 0.200 19 43527099 stop gained G/A;T snv 1.3E-05; 6.5E-06 0.700 0
dbSNP: rs769259233
rs769259233
1 1.000 0.200 19 43526196 splice region variant C/T snv 1.2E-05 0.700 0