Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1385994420
rs1385994420
1.000 0.120 1 156136342 missense variant G/A snv
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
0.010 1.000 1 2010 2010