rs1060499583, CHD4

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.
SIFRIM-HITZ-WEISS SYNDROME
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
7 1.000 12 6587518 missense variant A/C snv 0.700 0