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: rs137853063
rs137853063
VRK1
4 0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs371295780
rs371295780
VRK1
1 1.000 0.080 14 96847326 missense variant A/G snv 2.8E-05 2.8E-05 0.700 1.000 1 2016 2016
dbSNP: rs772731615
rs772731615
VRK1
1 1.000 0.080 14 96860628 missense variant C/T snv 2.0E-04 0.700 1.000 1 2016 2016
dbSNP: rs773138218
rs773138218
VRK1
1 1.000 0.080 14 96846144 missense variant G/A;C snv 3.2E-05 0.700 1.000 1 2013 2013
dbSNP: rs1064794609
rs1064794609
CHMP1A
1 1.000 0.080 16 89647238 stop gained C/A;G;T snv 4.2E-06; 4.2E-06 0.700 0
dbSNP: rs1566713184
rs1566713184
VRK1
1 1.000 0.080 14 96860643 stop gained C/T snv 0.700 0
dbSNP: rs771364038
rs771364038
VRK1
1 1.000 0.080 14 96855353 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.700 0
dbSNP: rs772263867
rs772263867
VRK1
1 1.000 0.080 14 96846143 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs779282547
rs779282547
VRK1
1 1.000 0.080 14 96856576 frameshift variant AAAC/- delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs780789145
rs780789145
VRK1
1 1.000 0.080 14 96833477 frameshift variant T/- del 4.0E-06 7.0E-06 0.700 0
dbSNP: rs141138948
rs141138948
EXOSC3
9 0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 0.030 1.000 3 2013 2018
dbSNP: rs387907196
rs387907196
EXOSC3
12 0.807 0.080 9 37784953 missense variant C/G snv 2.0E-05 0.020 1.000 2 2013 2018
dbSNP: rs1266703941
rs1266703941
EXOSC8
2 0.925 0.080 13 37002522 missense variant G/A;C snv 8.2E-06; 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs374550999
rs374550999
EXOSC3
2 0.925 0.080 9 37784807 missense variant C/A;G snv 1.5E-04 0.010 1.000 1 2013 2013
dbSNP: rs868010710
rs868010710
VRK1
4 0.851 0.080 14 96833502 missense variant A/G snv 0.010 1.000 1 2018 2018