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: rs137852959
rs137852959
PANK2 ; MIR103B2
9 0.790 0.160 20 3918695 missense variant G/A snv 8.7E-05 2.3E-04 0.820 1.000 13 2001 2016
dbSNP: rs137852962
rs137852962
PANK2
1 1.000 0.080 20 3908153 missense variant C/T snv 8.0E-06 7.0E-06 0.810 1.000 8 2001 2016
dbSNP: rs137852961
rs137852961
PANK2
1 1.000 0.080 20 3908087 missense variant C/T snv 8.0E-06 7.0E-06 0.800 1.000 7 2001 2016
dbSNP: rs137852963
rs137852963
PANK2
1 1.000 0.080 20 3912634 missense variant G/A snv 0.800 1.000 7 2001 2016
dbSNP: rs137852967
rs137852967
PANK2 ; MIR103B2
3 0.882 0.080 20 3918717 missense variant C/T snv 1.2E-05 2.1E-05 0.800 1.000 7 2001 2016
dbSNP: rs746484727
rs746484727
PANK2
1 1.000 0.080 20 3910659 missense variant A/G snv 2.4E-05 7.0E-06 0.710 1.000 8 2001 2016
dbSNP: rs1348762206
rs1348762206
PANK2
1 1.000 0.080 20 3908130 missense variant G/A;T snv 4.0E-06 0.700 1.000 7 2001 2016
dbSNP: rs137852964
rs137852964
PANK2
2 0.925 0.080 20 3910646 missense variant T/C snv 0.700 1.000 7 2001 2016
dbSNP: rs137852965
rs137852965
PANK2
2 0.925 0.080 20 3907997 missense variant A/G snv 1.6E-05 7.0E-06 0.700 1.000 7 2001 2016
dbSNP: rs137852966
rs137852966
PANK2
2 0.925 0.080 20 3908129 missense variant C/T snv 8.0E-06 0.700 1.000 7 2001 2016
dbSNP: rs750176786
rs750176786
PANK2
1 1.000 0.080 20 3912460 missense variant T/C snv 4.0E-06 2.1E-05 0.700 1.000 7 2001 2016
dbSNP: rs752078407
rs752078407
PANK2
3 1.000 0.080 20 3910806 missense variant A/T snv 6.4E-05 3.5E-05 0.700 1.000 7 2001 2016
dbSNP: rs754521581
rs754521581
PANK2
1 1.000 0.080 20 3910665 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.700 1.000 7 2001 2016
dbSNP: rs759223327
rs759223327
PANK2
1 1.000 0.080 20 3910787 missense variant G/A snv 8.0E-06 0.700 1.000 7 2001 2016
dbSNP: rs759332123
rs759332123
PANK2 ; MIR103A2 ; MIR103B2
1 1.000 0.080 20 3917013 missense variant A/T snv 4.0E-06 0.700 1.000 7 2001 2016
dbSNP: rs765679726
rs765679726
PANK2 ; PANK2-AS1
1 1.000 0.080 20 3889501 missense variant A/G snv 0.700 1.000 7 2001 2016
dbSNP: rs775459398
rs775459398
PANK2 ; MIR103A2 ; MIR103B2
1 1.000 0.080 20 3917016 missense variant T/A;C snv 4.0E-06 0.700 1.000 7 2001 2016
dbSNP: rs1555787646
rs1555787646
PANK2
1 1.000 0.080 20 3907977 missense variant A/G snv 0.700 1.000 4 2007 2015
dbSNP: rs1261714833
rs1261714833
PANK2
1 1.000 0.080 20 3912456 splice acceptor variant A/C snv 0.700 1.000 2 2001 2003
dbSNP: rs766251466
rs766251466
PANK2 ; MIR103A2
1 1.000 0.080 20 3916956 inframe deletion GAG/- del 2.8E-05 0.700 1.000 2 2005 2006
dbSNP: rs137852968
rs137852968
PANK2 ; MIR103A2
3 0.925 0.080 20 3916955 stop gained C/A;T snv 4.0E-06; 1.2E-05; 3.6E-05 0.700 1.000 1 2002 2002
dbSNP: rs1555787799
rs1555787799
PANK2
1 1.000 0.080 20 3908233 stop gained T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1555789557
rs1555789557
PANK2 ; MIR103A2
1 1.000 0.080 20 3916940 frameshift variant ATGA/- del 0.700 1.000 1 2017 2017
dbSNP: rs753400880
rs753400880
PANK2
1 1.000 0.080 20 3910690 frameshift variant C/- delins 8.0E-06 7.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs1012947103
rs1012947103
PANK2
1 1.000 0.080 20 3912505 missense variant G/A snv 7.0E-06 0.700 0