Source: ALL

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: rs786204030
rs786204030
MTHFR
0.882 0.080 1 11791276 stop gained C/T snv
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs786204030
rs786204030
MTHFR
0.882 0.080 1 11791276 stop gained C/T snv
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 0
dbSNP: rs786204030
rs786204030
MTHFR
0.882 0.080 1 11791276 stop gained C/T snv
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		0.700 0