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 0.020 1.000 2 2010 2013
dbSNP: rs745530646
rs745530646
YARS1
2 0.925 0.200 1 32810956 frameshift variant A/- delins 4.0E-06 7.0E-06 0.020 1.000 2 2010 2013
dbSNP: rs775505592
rs775505592
YARS1
2 0.925 0.200 1 32810956 missense variant A/T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2010 2013
dbSNP: rs587777213
rs587777213
YARS2
2 0.925 0.200 12 32755738 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs772041297
rs772041297
TRMU
1 1.000 0.200 22 46350369 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012