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: rs397514598
rs397514598
PNPT1
1 1.000 2 55667007 missense variant T/C snv 0.800 1.000 1 2012 2012
dbSNP: rs374698153
rs374698153
PNPT1
1 1.000 2 55647357 missense variant G/C snv 3.2E-05 7.7E-05 0.700 1.000 3 2012 2016
dbSNP: rs200088200
rs200088200
PNPT1
1 1.000 2 55656211 missense variant G/C snv 4.0E-06 1.4E-05 0.700 1.000 2 2012 2016
dbSNP: rs146571352
rs146571352
PNPT1
1 1.000 2 55647424 missense variant C/T snv 9.7E-04 1.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs1559094461
rs1559094461
PNPT1
1 1.000 2 55654900 missense variant C/G snv 0.700 0
dbSNP: rs1559114055
rs1559114055
PNPT1
1 1.000 2 55687659 missense variant A/G snv 0.700 0
dbSNP: rs746356243
rs746356243
PNPT1
1 1.000 2 55683831 missense variant C/G;T snv 1.2E-05; 2.4E-05 0.700 0
dbSNP: rs752550279
rs752550279
PNPT1
1 1.000 2 55640638 missense variant C/A;G snv 0.700 0
dbSNP: rs778100619
rs778100619
PNPT1
1 1.000 2 55672999 stop gained G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs863225449
rs863225449
PNPT1
1 1.000 2 55683835 splice acceptor variant C/T snv 0.700 0
dbSNP: rs879255657
rs879255657
PNPT1
1 1.000 2 55647421 missense variant C/G snv 1.4E-05 0.700 0