rs1043679457, ERCC8

N. diseases: 33
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.
Pallor of optic disc
CUI: C0554970
Disease: Pallor of optic disc
4 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
Polyneuropathy
CUI: C0152025
Disease: Polyneuropathy
32 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
Retinal pigment epithelial mottling
CUI: C1857644
Disease: Retinal pigment epithelial mottling
2 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
Thick vermilion border
CUI: C1836543
Disease: Thick vermilion border
15 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
Weight less than 3rd percentile
CUI: C1844806
Disease: Weight less than 3rd percentile
27 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0