rs530569572, CPLANE1

N. diseases: 1
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 17
CUI: C3553264
Disease: JOUBERT SYNDROME 17
65 1.000 5 37226811 stop gained A/C snv 8.4E-05 6.3E-05 0.700 1.000 1 2015 2015