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: rs1569271378
rs1569271378
POLA1
1 X 24703336 missense variant T/G snv 0.700 1.000 1 2019 2019
dbSNP: rs1569271892
rs1569271892
POLA1
1 X 24704469 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1569277866
rs1569277866
POLA1
1 X 24715139 splice region variant AAAGCTGTAGACTTGTCCAAGGATGGTCTGCTAGGTGACATTCTACAGGATCTTAACACTGAG/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1569277899
rs1569277899
POLA1
1 X 24715204 splice donor variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1569350993
rs1569350993
POLA1
1 X 24888118 missense variant C/T snv 0.700 1.000 1 2019 2019