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: rs1431341935
rs1431341935
SORD
1 15 45023318 frameshift variant -/G delins 4.5E-06 0.010 1.000 1 2015 2015
dbSNP: rs1440200916
rs1440200916
PDGFRA
2 4 54258803 missense variant G/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.020 0.500 2 2019 2020
dbSNP: rs1452231640
rs1452231640
POLB
4 1.000 0.080 8 42339015 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019