rs104894796, EFNB1

N. diseases: 1
Source: CLINVAR ×
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.
Craniofrontonasal dysplasia
CUI: C0220767
Disease: Craniofrontonasal dysplasia
18 1.000 0.080 X 68838820 missense variant C/T snv 0.800 1.000 0 2004 2005