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: rs757743894
rs757743894
RARS2
1 1.000 0.080 6 87545677 inframe deletion TTT/- del 1.3E-04 1.5E-04 0.700 1.000 2 2012 2016
dbSNP: rs772887102
rs772887102
RARS2
9 0.807 0.200 6 87548623 missense variant A/C snv 2.2E-04 2.8E-05 0.700 1.000 2 2015 2016
dbSNP: rs1258569046
rs1258569046
RARS2
1 1.000 0.080 6 87529572 missense variant A/T snv 8.0E-06 0.700 0
dbSNP: rs147391618
rs147391618
ORC3 ; RARS2
1 1.000 0.080 6 87589923 missense variant T/C snv 6.8E-05 5.6E-05 0.700 0
dbSNP: rs1554203400
rs1554203400
RARS2
1 1.000 0.080 6 87555433 frameshift variant G/- delins 0.700 0
dbSNP: rs199835443
rs199835443
RARS2
1 1.000 0.080 6 87524588 stop gained G/A;C snv 4.4E-05; 4.0E-06 0.700 0
dbSNP: rs387907048
rs387907048
RARS2
1 1.000 0.080 6 87521475 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs750433723
rs750433723
RARS2
1 1.000 0.080 6 87514952 splice region variant C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs756696262
rs756696262
RARS2
1 1.000 0.080 6 87520237 frameshift variant TT/-;TTT delins 0.700 0
dbSNP: rs759922477
rs759922477
RARS2
1 1.000 0.080 6 87519582 splice donor variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs765088174
rs765088174
RARS2
1 1.000 0.080 6 87516848 missense variant T/C snv 2.8E-05 4.9E-05 0.700 0
dbSNP: rs774923951
rs774923951
ORC3 ; RARS2
1 1.000 0.080 6 87589957 start lost T/A;C;G snv 8.0E-06; 1.1E-04; 1.6E-05 0.700 0
dbSNP: rs781417096
rs781417096
RARS2
9 0.807 0.200 6 87514995 frameshift variant T/- delins 1.6E-05 7.0E-06 0.700 0