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: rs397515410
rs397515410
HARS2
2 0.925 0.280 5 140695810 missense variant C/G snv 0.800 1.000 2 2011 2020
dbSNP: rs376177973
rs376177973
HARS2
2 0.925 0.280 5 140697311 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs140540222
rs140540222
HARS2
1 1.000 5 140695556 missense variant C/T snv 5.6E-05 8.4E-05 0.700 0
dbSNP: rs1562047621
rs1562047621
HARS1 ; HARS2
1 1.000 5 140693619 missense variant T/A snv 0.700 0
dbSNP: rs201392711
rs201392711
HARS1 ; HARS2
1 1.000 5 140693654 missense variant A/G snv 6.0E-05 7.0E-05 0.700 0
dbSNP: rs754069818
rs754069818
HARS2
1 1.000 5 140694010 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs778499309
rs778499309
HARS2
1 1.000 5 140697189 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 0