ELN, elastin, 2006

N. diseases: 545; N. variants: 61
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: rs781952083
rs781952083
1.000 0.040 7 74043894 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs863223526
rs863223526
1.000 0.040 7 74046710 frameshift variant G/- delins
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.010 1.000 1 2012 2012