rs587778779, CYP27A1

N. diseases: 14
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormality of the cerebellum
CUI: C1866129
Disease: Abnormality of the cerebellum
11 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
24 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
104 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
Distal lower limb amyotrophy
CUI: C1836451
Disease: Distal lower limb amyotrophy
8 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
Lower limb hyperreflexia
CUI: C1836696
Disease: Lower limb hyperreflexia
6 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
Reduced bone mineral density
CUI: C2674432
Disease: Reduced bone mineral density
2 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
Reduced visual acuity
CUI: C0234632
Disease: Reduced visual acuity
10 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
Vitamin D Deficiency
CUI: C0042870
Disease: Vitamin D Deficiency
37 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
Xanthoma tendinosum
CUI: C0221253
Disease: Xanthoma tendinosum
22 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
Xanthomatosis, Cerebrotendinous
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
71 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0