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.
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
32 0.923 0.071 10 121517371 synonymous variant C/T snp 4.0E-06 0.700 5 1995 2008
CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT
1 0.923 0.071 10 121517371 synonymous variant C/T snp 4.0E-06 0.700 5 1995 2008
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
1 0.923 0.071 10 121517371 synonymous variant C/T snp 4.0E-06 0.700 5 1995 2008
Abnormality of the skull
CUI: C0235942
Disease: Abnormality of the skull
13 0.923 0.071 10 121517371 synonymous variant C/T snp 4.0E-06 0.700 1 2015 2015
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
37 0.923 0.071 10 121517371 synonymous variant C/T snp 4.0E-06 0.700 1 2015 2015