HMCN1, hemicentin 1, 83872

N. diseases: 28; N. variants: 6
Disease: Macular Degeneration, Age-Related, 1 ×
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: rs121434382
rs121434382 		0.925 0.040 1 186178506 missense variant A/G snv 7.3E-04 6.8E-04
CUI: C1864205
Disease: Macular Degeneration, Age-Related, 1
Macular Degeneration, Age-Related, 1 		Eye Diseases 0.700 1.000 1 2003 2003
dbSNP: rs879255520
rs879255520 		1.000 0.040 1 186001390 frameshift variant C/- delins
CUI: C1864205
Disease: Macular Degeneration, Age-Related, 1
Macular Degeneration, Age-Related, 1 		Eye Diseases 0.700 0