rs773850151, FBXL4

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.
Abnormality of brain morphology
CUI: C4021085
Disease: Abnormality of brain morphology
131 1.000 6 98899353 missense variant C/G;T snv 8.0E-06 0.700 1.000 2 2015 2017
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
CUI: C3809592
Disease: FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
52 1.000 6 98899353 missense variant C/G;T snv 8.0E-06 0.700 1.000 2 2015 2017