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: rs267607180
rs267607180
YARS2
2 0.925 0.200 12 32755719 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.810 1.000 5 2010 2018
dbSNP: rs587777213
rs587777213
YARS2
2 0.925 0.200 12 32755738 missense variant C/T snv 4.0E-06 0.800 1.000 2 2010 2012
dbSNP: rs372098364
rs372098364
YARS2
1 1.000 12 32755124 missense variant T/C;G snv 5.6E-05; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs797045077
rs797045077
YARS2
1 1.000 12 32755515 frameshift variant -/C delins 4.1E-06 0.700 1.000 1 2016 2016
dbSNP: rs11539445
rs11539445
YARS2
2 0.925 0.160 12 32755303 missense variant C/A;T snv 0.12 0.700 0
dbSNP: rs587777214
rs587777214
YARS2
1 1.000 12 32750744 stop gained G/A;T snv 1.6E-05 0.700 0
dbSNP: rs587777215
rs587777215
YARS2
1 1.000 12 32747335 missense variant T/C snv 0.700 0
dbSNP: rs745530646
rs745530646
YARS1
2 0.925 0.200 1 32810956 frameshift variant A/- delins 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs775505592
rs775505592
YARS1
2 0.925 0.200 1 32810956 missense variant A/T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018