COL18A1, collagen type XVIII alpha 1 chain, 80781

N. diseases: 323; N. variants: 41
Disease: Retinal Dystrophies ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518802
rs1057518802 		0.882 0.080 21 45509554 stop gained C/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs1555870809
rs1555870809 		21 45494560 stop gained C/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs1555874538
rs1555874538 		21 45504521 frameshift variant GGCCCCCC/- del
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs749009747
rs749009747 		1.000 0.160 21 45497645 frameshift variant C/-;CC delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs765919785
rs765919785 		0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs778612831
rs778612831 		21 45488416 splice acceptor variant A/G snv 4.0E-06 7.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0