rs202080674, ERCC6

N. diseases: 4
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.
Cockayne Syndrome, Type II
CUI: C0751038
Disease: Cockayne Syndrome, Type II
69 0.851 0.160 10 49482848 missense variant G/A snv 8.0E-06 0.800 1.000 5 1998 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.851 0.160 10 49482848 missense variant G/A snv 8.0E-06 0.700 1.000 7 1992 2016
Microcephaly
CUI: C0025958
Disease: Microcephaly
27 0.851 0.160 10 49482848 missense variant G/A snv 8.0E-06 0.010 1.000 1 2014 2014
Progeria
CUI: C0033300
Disease: Progeria
41 0.851 0.160 10 49482848 missense variant G/A snv 8.0E-06 0.010 1.000 1 2014 2014