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: rs267606957
rs267606957
PNKP
1 1.000 19 49864376 missense variant G/A;C snv 0.810 1.000 3 2010 2016
dbSNP: rs267606956
rs267606956
PNKP
2 1.000 19 49862424 stop gained C/A;T snv 0.800 1.000 2 2010 2016
dbSNP: rs376854895
rs376854895
PNKP
1 1.000 19 49861609 missense variant C/G;T snv 1.5E-04; 1.5E-03 0.700 1.000 2 2010 2016
dbSNP: rs1247055716
rs1247055716
PNKP
1 1.000 19 49864178 splice donor variant C/A snv 4.2E-05 0.700 0
dbSNP: rs199919568
rs199919568
PNKP
1 1.000 19 49862369 splice donor variant A/C;G snv 1.1E-03 0.700 0
dbSNP: rs372148913
rs372148913
PNKP
1 1.000 19 49862432 missense variant G/A snv 5.0E-05 4.2E-05 0.700 0
dbSNP: rs587784365
rs587784365
PNKP
3 0.882 19 49861800 frameshift variant -/GTCGATGGCGACCCGTT delins 1.7E-04 1.8E-04 0.700 0
dbSNP: rs587784366
rs587784366
PNKP
2 0.925 0.160 19 49861766 splice donor variant TACCTGGCGC/- delins 2.1E-05 0.700 0
dbSNP: rs752902474
rs752902474
PNKP
2 0.925 19 49861543 non coding transcript exon variant AGGAGGGGGGTCAGGGG/-;AGGAGGGGGGTCAGGGGAGGAGGGGGGTCAGGGG delins 0.700 0
dbSNP: rs786205207
rs786205207
PNKP
2 0.925 19 49861847 inframe deletion GGT/- delins 2.1E-04 0.700 0