rs1567498374, KARS1

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Acidosis, Lactic
CUI: C0001125
Disease: Acidosis, Lactic
21 0.882 0.160 16 75630493 frameshift variant G/-;GG delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.160 16 75630493 frameshift variant G/-;GG delins 0.700 0
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.882 0.160 16 75630493 frameshift variant G/-;GG delins 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.160 16 75630493 frameshift variant G/-;GG delins 0.700 0
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.882 0.160 16 75630493 frameshift variant G/-;GG delins 0.700 0