rs1554557920, 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 93803677 splice donor variant TGAGTAATGTAA/G delins 0.700 0