rs771063992, DNAJC21

N. diseases: 7
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.
Abnormality of the tongue
CUI: C0878638
Disease: Abnormality of the tongue
2 0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05 0.700 0
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05 0.700 0
Neck webbing
CUI: C0221217
Disease: Neck webbing
19 0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05 0.700 0
Pancytopenia
CUI: C0030312
Disease: Pancytopenia
15 0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05 0.700 0