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: rs759100705
rs759100705
1.000 0.080 6 45431872 missense variant C/T snv 8.0E-06
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
0.010 1.000 1 2012 2012