CFHR2, complement factor H related 2, 3080

N. diseases: 12; N. variants: 8
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: rs12066959
rs12066959 		1 196948769 intron variant G/A snv 0.26
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs1853881
rs1853881 		1.000 0.040 1 196946615 intron variant A/C snv 0.11
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs201886468
rs201886468 		1 196948769 intron variant -/AT delins 1.4E-02
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs3790414
rs3790414 		1 196951169 intron variant T/A snv 0.26
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs3828032
rs3828032 		1.000 0.040 1 196951048 intron variant C/G;T snv 0.28
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4085749
rs4085749 		1 196951018 stop gained C/A;T snv 0.31
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs432366
rs432366 		1.000 0.040 1 196943061 upstream gene variant C/G;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs9427934
rs9427934 		1.000 0.040 1 196953730 intron variant G/A snv 0.32
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2013 2013