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.
Anemia
CUI: C0002871
Disease: Anemia
94 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
Bone marrow hypocellularity
CUI: C1855710
Disease: Bone marrow hypocellularity
5 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
Dental caries
CUI: C0011334
Disease: Dental caries
126 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
Dystrophia unguium
CUI: C0221260
Disease: Dystrophia unguium
9 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
Excessive tearing
CUI: C0152227
Disease: Excessive tearing
2 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
Leukoplakia, Oral
CUI: C0023532
Disease: Leukoplakia, Oral
6 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
Palmoplantar Keratosis
CUI: C0022596
Disease: Palmoplantar Keratosis
6 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
Pancytopenia
CUI: C0030312
Disease: Pancytopenia
15 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
Premature canities
CUI: C0263498
Disease: Premature canities
4 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
Splenomegaly
CUI: C0038002
Disease: Splenomegaly
19 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
X-Linked Dyskeratosis Congenita
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
33 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0