rs387907133, TMEM138

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 16
CUI: C3280906
Disease: JOUBERT SYNDROME 16
4 1.000 11 61368600 missense variant C/T snv 4.0E-06 0.800 1.000 2 2012 2015