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: rs104893989
rs104893989
1.000 0.080 6 45431963 missense variant T/C;G snv 2.0E-05
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
0.800 1.000 18 1997 2018