rs201502401, CC2D2A

N. diseases: 3
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 9 (disorder)
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
50 0.882 0.320 4 15599699 missense variant A/T snv 2.0E-04 2.0E-04 0.800 1.000 9 2008 2015
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.882 0.320 4 15599699 missense variant A/T snv 2.0E-04 2.0E-04 0.700 1.000 7 2009 2015
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.882 0.320 4 15599699 missense variant A/T snv 2.0E-04 2.0E-04 0.700 1.000 6 2009 2015