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: rs1553621496
rs1553621496
UNC80
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs759523685
rs759523685
NRG1
1 1.000 8 32756506 missense variant C/A;T snv 6.0E-05; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs786205159
rs786205159
SIK1
2 0.925 21 43420347 missense variant G/T snv 0.010 1.000 1 2017 2017