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: rs28939088
rs28939088
PANK2
1 1.000 0.080 20 3912532 start lost T/C snv 0.710 1.000 1 2006 2006
dbSNP: rs137852959
rs137852959
PANK2 ; MIR103B2
9 0.790 0.160 20 3918695 missense variant G/A snv 8.7E-05 2.3E-04 0.700 0
dbSNP: rs137852967
rs137852967
PANK2 ; MIR103B2
3 0.882 0.080 20 3918717 missense variant C/T snv 1.2E-05 2.1E-05 0.700 0
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 0
dbSNP: rs148987163
rs148987163
PANK2 ; MIR103A2
2 0.925 0.080 20 3916926 splice acceptor variant G/T snv 1.6E-05 7.1E-06 0.700 0