rs386834182, 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.
Meckel syndrome type 3
CUI: C1846357
Disease: Meckel syndrome type 3
39 0.925 0.360 8 93786253 missense variant G/A snv 6.0E-05 4.2E-05 0.800 1.000 5 2006 2010
COACH syndrome
CUI: C1857662
Disease: COACH syndrome
38 0.925 0.360 8 93786253 missense variant G/A snv 6.0E-05 4.2E-05 0.700 1.000 3 2009 2017