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: rs199589947
rs199589947
LARS2 ; LARS2-AS1
3 0.882 0.280 3 45496316 missense variant C/A snv 3.0E-04 2.5E-04 0.710 1.000 1 2017 2017
dbSNP: rs786205560
rs786205560
LARS2
1 1.000 0.280 3 45419670 missense variant A/C snv 0.700 0
dbSNP: rs141315771
rs141315771
TWNK
1 1.000 0.280 10 100993257 missense variant G/A snv 2.8E-05 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs1468024757
rs1468024757
HARS1
1 1.000 0.280 5 140676749 missense variant C/G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs200089613
rs200089613
HARS2
2 0.925 0.280 5 140698056 missense variant G/A;T snv 8.0E-05; 3.7E-04 0.010 1.000 1 2020 2020
dbSNP: rs374161061
rs374161061
HSD17B4
2 1.000 0.280 5 119499543 missense variant A/G snv 1.2E-04 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs376177973
rs376177973
HARS2
2 0.925 0.280 5 140697311 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs397515410
rs397515410
HARS2
2 0.925 0.280 5 140695810 missense variant C/G snv 0.010 1.000 1 2011 2011
dbSNP: rs755882900
rs755882900
HARS1
1 1.000 0.280 5 140677102 missense variant C/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs773142741
rs773142741
LARS2 ; LARS2-AS1
1 1.000 0.280 3 45488769 missense variant A/G snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs863223921
rs863223921
TWNK ; MRPL43
3 0.925 0.280 10 100989406 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017