rs875989810, 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.
Cerebrooculofacioskeletal Syndrome 1
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
58 0.851 0.400 10 49528426 stop gained C/A snv 0.700 1.000 2 2015 2017
Cockayne Syndrome, Type II
CUI: C0751038
Disease: Cockayne Syndrome, Type II
69 0.851 0.400 10 49528426 stop gained C/A snv 0.700 1.000 2 2015 2017
De Sanctis-Cacchione syndrome
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
51 0.851 0.400 10 49528426 stop gained C/A snv 0.700 1.000 2 2015 2017
PREMATURE OVARIAN FAILURE 11
CUI: C4310783
Disease: PREMATURE OVARIAN FAILURE 11
6 0.851 0.400 10 49528426 stop gained C/A snv 0.700 0