rs1557607997, MMACHC

N. diseases: 4
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.
Drowsiness
CUI: C0013144
Disease: Drowsiness
3 0.925 0.160 1 45508296 frameshift variant -/C delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.160 1 45508296 frameshift variant -/C delins 0.700 0
Methylmalonic acidemia with homocystinuria
58 0.925 0.160 1 45508296 frameshift variant -/C delins 0.700 0
Vomiting
CUI: C0042963
Disease: Vomiting
23 0.925 0.160 1 45508296 frameshift variant -/C delins 0.700 0