rs761964407, SERAC1

N. diseases: 4
Source: CLINVAR ×
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.
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
CUI: C3553597
Disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
7 1.000 6 158114826 frameshift variant -/ATAG delins 1.5E-04 1.5E-04 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 1.000 6 158114826 frameshift variant -/ATAG delins 1.5E-04 1.5E-04 0.700 0
Mixed respiratory and metabolic acidosis
CUI: C1840372
Disease: Mixed respiratory and metabolic acidosis
3 1.000 6 158114826 frameshift variant -/ATAG delins 1.5E-04 1.5E-04 0.700 0
Respiratory distress
CUI: C0476273
Disease: Respiratory distress
10 1.000 6 158114826 frameshift variant -/ATAG delins 1.5E-04 1.5E-04 0.700 0