rs587783013, AHI1

N. diseases: 2
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.
JOUBERT SYNDROME 3
CUI: C1837713
Disease: JOUBERT SYNDROME 3
45 0.925 0.160 6 135433119 stop gained C/T snv 1.6E-05 7.0E-06 0.700 1.000 4 2015 2017
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.925 0.160 6 135433119 stop gained C/T snv 1.6E-05 7.0E-06 0.700 0