rs1554615516, 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.
COACH syndrome
CUI: C1857662
Disease: COACH syndrome
38 1.000 0.200 8 93763874 stop gained C/T snv 0.700 0