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: rs397515538
rs397515538
1.000 0.071 6 45422624 frameshift variant C/CC in-del
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
0.700 1 1993 1993