Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893851
rs104893851
MMAA
1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 1.000 8 2004 2017
dbSNP: rs104893851
rs104893851
MMAA
1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.700 1.000 5 2004 2017
dbSNP: rs104893851
rs104893851
MMAA
1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs104893851
rs104893851
MMAA
1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04
CUI: C0042963
Disease: Vomiting
Vomiting 		0.700 0
dbSNP: rs104893851
rs104893851
MMAA
1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04
CUI: C4531053
Disease: Elevated propionylcarnitine level
Elevated propionylcarnitine level 		0.700 0
dbSNP: rs104893851
rs104893851
MMAA
1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		0.700 0