DNMT1, DNA methyltransferase 1, 1786

N. diseases: 496; N. variants: 36
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie ×
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: rs199473690
rs199473690 		1.000 0.080 19 10155017 missense variant T/C snv
CUI: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs199473691
rs199473691 		1.000 0.080 19 10155029 missense variant GGA/TAT mnv
CUI: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs199473692
rs199473692 		1.000 0.080 19 10155018 missense variant A/G snv
CUI: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0