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: rs879253752
rs879253752
MME
1 1.000 3 155168572 missense variant T/C snv 0.800 1.000 2 2016 2016
dbSNP: rs199567914
rs199567914
MME
1 1.000 3 155142075 missense variant G/C snv 7.0E-06 0.700 1.000 2 2016 2016
dbSNP: rs777476150
rs777476150
MME
1 1.000 3 155143519 missense variant C/A snv 2.0E-05 7.0E-06 0.700 1.000 2 2016 2016
dbSNP: rs797045039
rs797045039
DNAJB2
1 1.000 2 219282052 stop gained G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519023
rs1057519023
MME
1 1.000 3 155116987 splice donor variant G/A snv 0.700 0
dbSNP: rs1057519024
rs1057519024
MME
1 1.000 3 155116561 splice donor variant T/A snv 0.700 0
dbSNP: rs138218277
rs138218277
MME
1 1.000 3 155142073 missense variant A/G snv 5.3E-04 6.3E-04 0.700 0
dbSNP: rs1559961997
rs1559961997
MME
1 1.000 3 155166907 missense variant C/T snv 0.700 0
dbSNP: rs1559963660
rs1559963660
MME
1 1.000 3 155168789 missense variant G/A snv 0.700 0
dbSNP: rs765591205
rs765591205
MME
1 1.000 3 155118744 splice acceptor variant A/G snv 4.2E-05 7.0E-06 0.700 0
dbSNP: rs879253751
rs879253751
MME
1 1.000 3 155118752 stop gained C/G;T snv 4.1E-06 0.700 0