rs775256658, TMEM67

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 6
CUI: C1853153
Disease: JOUBERT SYNDROME 6
48 1.000 0.160 8 93780985 splice region variant A/G snv 4.0E-06 0.700 1.000 1 2015 2015