rs566014072, PKD1

N. diseases: 3
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.
3-4 toe syndactyly
CUI: C1834062
Disease: 3-4 toe syndactyly
1 16 2110321 stop gained C/A;G;T snv 8.0E-06; 8.0E-06 0.700 0
Moderate sensorineural hearing impairment
CUI: C4024664
Disease: Moderate sensorineural hearing impairment
1 16 2110321 stop gained C/A;G;T snv 8.0E-06; 8.0E-06 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 16 2110321 stop gained C/A;G;T snv 8.0E-06; 8.0E-06 0.700 0