rs1554788393, ERCC6

N. diseases: 3
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 0.882 0.240 10 49482818 missense variant T/C snv 0.700 1.000 5 1998 2017
Cerebrooculofacioskeletal Syndrome 1
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
58 0.882 0.240 10 49482818 missense variant T/C snv 0.010 1.000 1 2001 2001
Xeroderma Pigmentosum
CUI: C0043346
Disease: Xeroderma Pigmentosum
35 0.882 0.240 10 49482818 missense variant T/C snv 0.010 1.000 1 2001 2001