rs201108965, TMEM216

N. diseases: 5
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 2
CUI: C1842577
Disease: JOUBERT SYNDROME 2
14 0.851 0.320 11 61393965 missense variant G/A;T snv 8.0E-06; 1.7E-04 0.800 1.000 5 2010 2015
MECKEL SYNDROME, TYPE 2
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
12 0.851 0.320 11 61393965 missense variant G/A;T snv 8.0E-06; 1.7E-04 0.800 1.000 4 2010 2012
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.851 0.320 11 61393965 missense variant G/A;T snv 8.0E-06; 1.7E-04 0.700 1.000 5 2010 2016
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.851 0.320 11 61393965 missense variant G/A;T snv 8.0E-06; 1.7E-04 0.700 1.000 3 2010 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.851 0.320 11 61393965 missense variant G/A;T snv 8.0E-06; 1.7E-04 0.700 1.000 3 2010 2015