Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 ×
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: rs879253867
rs879253867 		1.000 0.080 4 106328186 stop gained C/T snv
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs387906865
rs387906865 		1.000 0.080 4 106328143 frameshift variant CA/- delins
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs724159969
rs724159969 		1.000 0.080 4 106327456 stop gained C/T snv 7.0E-06
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs750731609
rs750731609 		0.882 0.080 4 106327501 frameshift variant A/- delins 3.2E-05 7.0E-05
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		Immune System Diseases; Nervous System Diseases 0.700 0