rs121434341, CHD7

N. diseases: 2
Source: BEFREE ×
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.
CHARGE Syndrome
CUI: C0265354
Disease: CHARGE Syndrome
1 0.807 0.360 8 60855993 missense variant C/A;T snv 0.810 1.000 1 2004 2015
Anastomosis
CUI: C0332853
Disease: Anastomosis
2 0.807 0.360 8 60855993 missense variant C/A;T snv 0.010 1.000 1 2008 2008