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: rs672601372
rs672601372
RARS1
3 0.925 0.120 5 168486503 missense variant A/C;G;T snv 4.2E-05 0.800 1.000 2 2014 2017
dbSNP: rs369398935
rs369398935
RARS1
1 1.000 5 168516860 missense variant G/A snv 1.6E-05 2.1E-05 0.800 1.000 1 2014 2014
dbSNP: rs1064792894
rs1064792894
RARS1
1 1.000 5 168518035 frameshift variant TA/- del 0.700 0
dbSNP: rs139644798
rs139644798
RARS1
2 0.925 0.120 5 168510601 missense variant C/T snv 3.8E-04 4.3E-04 0.700 0
dbSNP: rs672601373
rs672601373
RARS1
1 1.000 5 168486544 splice donor variant G/A;T snv 0.700 0
dbSNP: rs672601374
rs672601374
RARS1
1 1.000 5 168488650 frameshift variant TG/- delins 0.700 0
dbSNP: rs672601375
rs672601375
RARS1
1 1.000 5 168486499 start lost A/G snv 1.8E-05 3.5E-05 0.700 0
dbSNP: rs769713780
rs769713780
RARS1
1 1.000 5 168486500 start lost T/A;C;G snv 6.0E-06; 1.2E-05 0.700 0