Source: CLINVAR

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: rs886556800
rs886556800
CYP27A1
0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		0.700 1.000 1 2015 2015
dbSNP: rs886556800
rs886556800
CYP27A1
0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		0.700 0
dbSNP: rs886556800
rs886556800
CYP27A1
0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		0.700 0
dbSNP: rs886556800
rs886556800
CYP27A1
0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.700 0
dbSNP: rs886556800
rs886556800
CYP27A1
0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		0.700 0
dbSNP: rs886556800
rs886556800
CYP27A1
0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs886556800
rs886556800
CYP27A1
0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.700 0
dbSNP: rs886556800
rs886556800
CYP27A1
0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C0221166
Disease: Paraparesis
Paraparesis 		0.700 0
dbSNP: rs886556800
rs886556800
CYP27A1
0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		0.700 0
dbSNP: rs886556800
rs886556800
CYP27A1
0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0