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: rs1559328283
rs1559328283
PGAP1
1 1.000 2 196844077 splice acceptor variant T/G snv 0.700 1.000 1 2007 2007
dbSNP: rs1361547443
rs1361547443
PGAP1
1 1.000 2 196845964 stop gained A/T snv 1.4E-05 0.700 0
dbSNP: rs1410587479
rs1410587479
PGAP1
1 1.000 2 196916468 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs143038880
rs143038880
PGAP1
1 1.000 2 196875776 stop gained G/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs587777202
rs587777202
PGAP1
1 1.000 2 196847946 splice donor variant C/A;G;T snv 9.2E-06; 4.6E-06 0.700 0
dbSNP: rs587777378
rs587777378
PGAP1
1 1.000 2 196912940 inframe deletion AGA/- delins 0.700 0
dbSNP: rs750079325
rs750079325
PGAP1
1 1.000 2 196897130 splice donor variant C/T snv 4.5E-06 7.0E-06 0.700 0
dbSNP: rs767774867
rs767774867
PGAP1
1 1.000 2 196844055 frameshift variant -/TA ins 4.1E-06 7.0E-06 0.700 0
dbSNP: rs781325598
rs781325598
PGAP1
1 1.000 2 196875775 frameshift variant GTAT/- delins 8.2E-06 1.4E-05 0.700 0
dbSNP: rs869025578
rs869025578
PGAP1
1 1.000 2 196873007 stop gained A/T snv 0.700 0
dbSNP: rs869025579
rs869025579
PGAP1
1 1.000 2 196920022 inframe deletion GGA/- delins 0.700 0
dbSNP: rs869025580
rs869025580
PGAP1
1 1.000 2 196897133 frameshift variant TTAGT/- delins 0.700 0
dbSNP: rs869025581
rs869025581
PGAP1
1 1.000 2 196890913 splice acceptor variant T/C snv 0.700 0