rs12877501, COL4A2

N. diseases: 4
Source: CURATED ×
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.
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
181 0.925 0.160 13 110512039 missense variant G/A;C snv 5.0E-04 0.700 0
Hypoplasia of the optic nerve
CUI: C0338502
Disease: Hypoplasia of the optic nerve
13 0.925 0.160 13 110512039 missense variant G/A;C snv 5.0E-04 0.700 0
Pituitary Diseases
CUI: C0032002
Disease: Pituitary Diseases
1 0.925 0.160 13 110512039 missense variant G/A;C snv 5.0E-04 0.700 0
Sense of smell impaired
CUI: C2364082
Disease: Sense of smell impaired
4 0.925 0.160 13 110512039 missense variant G/A;C snv 5.0E-04 0.700 0