rs1060499734, VARS1

N. diseases: 2
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.
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY
CUI: C4540493
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY
15 1.000 6 31780935 missense variant G/A snv 0.800 1.000 1 2015 2015
Abnormality of brain morphology
CUI: C4021085
Disease: Abnormality of brain morphology
131 1.000 6 31780935 missense variant G/A snv 0.700 0