rs876657388, EDNRA

N. diseases: 2
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.
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
CUI: C4225349
Disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
2 0.925 0.240 4 147539823 missense variant G/A snv 0.800 1.000 1 2015 2015
Johnson neuroectodermal syndrome
CUI: C0796002
Disease: Johnson neuroectodermal syndrome
1 0.925 0.240 4 147539823 missense variant G/A snv 0.010 1.000 1 2015 2015