rs1555303073, COL4A1

N. diseases: 6
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.
Schizencephaly
CUI: C0266484
Disease: Schizencephaly
6 0.851 0.120 13 110176912 missense variant C/T snv 0.700 1.000 1 2013 2013
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
69 0.851 0.120 13 110176912 missense variant C/T snv 0.700 0
Hypoplasia of the optic nerve
CUI: C0338502
Disease: Hypoplasia of the optic nerve
14 0.851 0.120 13 110176912 missense variant C/T snv 0.700 0
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.851 0.120 13 110176912 missense variant C/T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.120 13 110176912 missense variant C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.120 13 110176912 missense variant C/T snv 0.700 0