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.
Nephrogenic Diabetes Insipidus, Type II
CUI: C1563706
Disease: Nephrogenic Diabetes Insipidus, Type II
24 0.851 0.200 12 49954233 missense variant G/A snv 5.3E-05 7.7E-05 0.700 1.000 18 1994 2014
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
CUI: C4015884
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
15 0.851 0.200 12 49954233 missense variant G/A snv 5.3E-05 7.7E-05 0.700 0
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
43 0.851 0.200 12 49954233 missense variant G/A snv 5.3E-05 7.7E-05 0.010 1.000 1 2000 2000
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.851 0.200 12 49954233 missense variant G/A snv 5.3E-05 7.7E-05 0.010 1.000 1 2000 2000