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: rs759670932
rs759670932
AARS2 ; TMEM151B
1 1.000 0.120 6 44307324 missense variant C/T snv 2.0E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs780148992
rs780148992
POLR3B
1 1.000 0.120 12 106369587 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2019 2019