Gene: KARS1 ×
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: rs1567498374
rs1567498374
KARS1
5 0.882 0.160 16 75630493 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs201650281
rs201650281
KARS1
8 0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 0.010 1.000 1 2018 2018