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: rs121908568
rs121908568
9 0.807 0.160 17 65536495 stop gained G/A snv 0.700 1.000 3 2004 2016
dbSNP: rs773157765
rs773157765
1 1.000 0.160 17 65536554 splice acceptor variant C/T snv 8.2E-06 0.700 1.000 2 2004 2011
dbSNP: rs775783026
rs775783026
1 1.000 0.160 17 65537837 splice acceptor variant T/C snv 1.4E-05 0.700 1.000 2 2004 2011
dbSNP: rs978837790
rs978837790
1 1.000 0.160 17 65536555 splice acceptor variant T/C snv 1.2E-05 1.4E-05 0.700 1.000 2 2004 2011
dbSNP: rs1299440644
rs1299440644
1 1.000 0.160 17 65534008 frameshift variant A/- delins 4.0E-06 0.700 0
dbSNP: rs1555577613
rs1555577613
1 1.000 0.160 17 65537390 frameshift variant T/- del 0.700 0
dbSNP: rs1555577625
rs1555577625
1 1.000 0.160 17 65537399 frameshift variant C/- delins 0.700 0
dbSNP: rs1555583659
rs1555583659
1 1.000 0.160 17 65558426 frameshift variant CG/- del 0.700 0
dbSNP: rs1567754914
rs1567754914
1 1.000 0.160 17 65536954 frameshift variant G/- del 0.700 0
dbSNP: rs1567769335
rs1567769335
1 1.000 0.160 17 65558387 stop gained C/T snv 0.700 0
dbSNP: rs267606674
rs267606674
2 0.925 0.160 17 65536467 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs367624903
rs367624903
1 1.000 0.160 17 65537394 stop gained C/A;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs730882193
rs730882193
6 0.807 0.200 17 65536472 stop gained C/G;T snv 0.700 0
dbSNP: rs771001164
rs771001164
1 1.000 0.160 17 65537821 frameshift variant CTCT/-;CT delins 5.4E-06 7.0E-06 0.700 0