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: rs786205157
rs786205157
AARS1
1 1.000 16 70277057 missense variant T/G snv 7.0E-06 0.800 0
dbSNP: rs369774476
rs369774476
AARS1 ; EXOSC6
1 1.000 16 70252890 missense variant C/T snv 2.4E-05 1.4E-05 0.700 1.000 2 2015 2017
dbSNP: rs143370729
rs143370729
AARS1
1 1.000 16 70255763 missense variant T/C snv 4.8E-05 4.2E-05 0.700 0
dbSNP: rs1555539157
rs1555539157
AARS1 ; EXOSC6
1 1.000 16 70252755 missense variant A/G snv 0.700 0