rs104893851, MMAA

N. diseases: 6
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.
Methylmalonic aciduria cblA type
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
56 1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04 0.700 1.000 8 2004 2017
Methylmalonic acidemia
CUI: C0268583
Disease: Methylmalonic acidemia
35 1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04 0.700 1.000 5 2004 2017
Elevated propionylcarnitine level
CUI: C4531053
Disease: Elevated propionylcarnitine level
1 1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04 0.700 0
Respiratory distress
CUI: C0476273
Disease: Respiratory distress
16 1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04 0.700 0
Vomiting
CUI: C0042963
Disease: Vomiting
23 1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04 0.700 0