rs541818422, CHD7

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.
CHARGE Syndrome
CUI: C0265354
Disease: CHARGE Syndrome
205 1.000 0.080 8 60856135 missense variant T/A;C;G snv 4.2E-06; 4.2E-06; 8.4E-06 0.700 1.000 13 2004 2015