Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057520529
rs1057520529
0.851 0.320 X 49251440 missense variant C/T snv
CUI: C0002871
Disease: Anemia
Anemia
0.700 0
dbSNP: rs1057520529
rs1057520529
0.851 0.320 X 49251440 missense variant C/T snv
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity
0.700 0
dbSNP: rs1057520529
rs1057520529
0.851 0.320 X 49251440 missense variant C/T snv
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.700 0
dbSNP: rs1057520529
rs1057520529
0.851 0.320 X 49251440 missense variant C/T snv
CUI: C0032285
Disease: Pneumonia
Pneumonia
0.700 0