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: rs104894158
rs104894158
0.851 0.080 10 62813835 missense variant A/T snv
Congenital hypomyelinating neuropathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs281865137
rs281865137
0.851 0.080 10 62813496 missense variant C/T snv
Congenital hypomyelinating neuropathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs757078088
rs757078088
1.000 0.080 10 62815875 missense variant T/C snv 4.0E-06 7.0E-06
Congenital hypomyelinating neuropathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019