rs386834189, 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.
Meckel syndrome type 3
CUI: C1846357
Disease: Meckel syndrome type 3
39 1.000 0.280 8 93797372 missense variant T/C snv 0.800 1.000 6 2006 2011