rs1177898071, PSMC3

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.
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
104 0.925 0.240 11 47419927 intron variant T/C;G snv 0.700 0
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
24 0.925 0.240 11 47419927 intron variant T/C;G snv 0.700 0
Severe sensorineural hearing impairment
CUI: C4021533
Disease: Severe sensorineural hearing impairment
5 0.925 0.240 11 47419927 intron variant T/C;G snv 0.700 0