rs587777333, QARS1

N. diseases: 3
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.
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
CUI: C4014239
Disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
11 0.925 0.120 3 49104420 missense variant A/G snv 4.0E-06 0.800 1.000 2 2014 2016
Microcephaly
CUI: C0025958
Disease: Microcephaly
27 0.925 0.120 3 49104420 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.120 3 49104420 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015