rs1114167448, ARMC9

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 30
CUI: C4539937
Disease: JOUBERT SYNDROME 30
9 1.000 2 231276776 splice donor variant G/C snv 0.700 0