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: rs587784365
rs587784365
PNKP
3 0.882 19 49861800 frameshift variant -/GTCGATGGCGACCCGTT delins 1.7E-04 1.8E-04 0.700 1.000 5 2010 2015
dbSNP: rs752902474
rs752902474
PNKP
2 0.925 19 49861543 non coding transcript exon variant AGGAGGGGGGTCAGGGG/-;AGGAGGGGGGTCAGGGGAGGAGGGGGGTCAGGGG delins 0.700 1.000 1 2010 2010
dbSNP: rs1568577135
rs1568577135
PLCB1
1 1.000 20 8733382 frameshift variant CTGT/- delins 0.700 0
dbSNP: rs539286945
rs539286945
PNKP
1 1.000 19 49861679 stop gained G/A;C snv 6.8E-06; 6.8E-06 0.700 0
dbSNP: rs766530579
rs766530579
PNKP
1 1.000 19 49867062 frameshift variant C/- del 1.2E-05 0.700 0
dbSNP: rs796052859
rs796052859
PNKP
1 1.000 19 49864211 frameshift variant -/A delins 3.2E-05 4.2E-05 0.700 0