rs1057524237, COL11A1

N. diseases: 7
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.
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.851 0.280 1 102915626 splice region variant C/T snv 0.700 0
Cutis verticis gyrata
CUI: C0263417
Disease: Cutis verticis gyrata
1 0.851 0.280 1 102915626 splice region variant C/T snv 0.700 0
Marshall syndrome
CUI: C0265235
Disease: Marshall syndrome
3 0.851 0.280 1 102915626 splice region variant C/T snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.851 0.280 1 102915626 splice region variant C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.280 1 102915626 splice region variant C/T snv 0.700 0
Severe myopia
CUI: C0271183
Disease: Severe myopia
116 0.851 0.280 1 102915626 splice region variant C/T snv 0.700 0
Thick upper lip vermilion
CUI: C1846423
Disease: Thick upper lip vermilion
4 0.851 0.280 1 102915626 splice region variant C/T snv 0.700 0