rs386834205, TMEM67

N. diseases: 2
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 0.925 0.320 8 93772612 stop gained G/A snv 8.0E-06 7.0E-06 0.700 1.000 1 2015 2015
Meckel syndrome type 3
CUI: C1846357
Disease: Meckel syndrome type 3
39 0.925 0.320 8 93772612 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0