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: rs138119149
rs138119149
AARS2 ; TMEM151B
11 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.800 1.000 6 2011 2018
dbSNP: rs387907061
rs387907061
AARS2
1 1.000 6 44311507 missense variant A/C snv 1.2E-05 1.4E-05 0.800 1.000 1 2011 2011
dbSNP: rs146512155
rs146512155
AARS2 ; TMEM151B
1 1.000 6 44305099 missense variant C/G;T snv 2.8E-04; 3.2E-05 0.700 0
dbSNP: rs1554147776
rs1554147776
AARS2 ; TMEM151B
1 1.000 6 44302810 missense variant C/T snv 0.700 0
dbSNP: rs1561938413
rs1561938413
AARS2 ; TMEM151B
1 1.000 6 44303404 missense variant T/G snv 0.700 0
dbSNP: rs200187887
rs200187887
AARS2 ; TMEM151B
1 1.000 6 44307304 missense variant G/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs587777589
rs587777589
AARS2
7 0.851 0.280 6 44311095 frameshift variant -/C delins 0.700 0
dbSNP: rs587777591
rs587777591
AARS2 ; TMEM151B
2 0.925 6 44305072 stop gained G/A snv 8.0E-06 0.700 0