Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201777056
rs201777056 		1.000 14 74292623 missense variant T/C;G snv 3.6E-05
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		0.800 1.000 1 2012 2012
dbSNP: rs387907315
rs387907315 		1.000 14 74286706 frameshift variant -/GA delins 4.0E-06 7.0E-06
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		0.700 0
dbSNP: rs767795583
rs767795583 		1.000 14 74287858 stop gained G/A snv 4.0E-06
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		0.700 0
dbSNP: rs769364566
rs769364566 		1.000 14 74296332 splice donor variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		0.700 0