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: rs745756308
rs745756308
HNMT ; LOC107985948
1.000 2 138013874 missense variant T/C snv 4.0E-06
CUI: C4225220
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 		0.800 0
dbSNP: rs745756308
rs745756308
HNMT ; LOC107985948
1.000 2 138013874 missense variant T/C snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 1.000 2 2015 2017