Source: ALL
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: rs748787734
rs748787734
TUBB4A
13 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs1114167292
rs1114167292
RUBCN
6 0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs146539065
rs146539065
SEPSECS
34 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs767982852
rs767982852
RUBCN
6 0.882 0.080 3 197694417 missense variant T/C snv 8.0E-06 4.9E-05 0.700 0
dbSNP: rs776969714
rs776969714
SEPSECS
34 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
dbSNP: rs797045074
rs797045074
TUBB4A
7 0.882 0.120 19 6495335 missense variant C/G;T snv 0.700 0