rs1554774587, DNM1

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.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 9 128222543 missense variant G/A snv 0.700 1.000 38 1983 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
13 1.000 9 128222543 missense variant G/A snv 0.700 1.000 2 2014 2017