Source: ALL

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: rs864621970
rs864621970
1.000 0.080 6 45431915 missense variant G/A snv
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
0.700 1.000 1 2015 2015