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: rs387906792
rs387906792
AARS1
1 1.000 0.080 16 70277088 missense variant T/A snv 0.800 1.000 3 2010 2012
dbSNP: rs267606621
rs267606621
AARS1
3 0.882 0.080 16 70268356 missense variant C/T snv 0.700 1.000 2 2010 2015
dbSNP: rs1555542415
rs1555542415
AARS1
1 1.000 0.080 16 70276971 missense variant A/G snv 0.700 0