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: rs752933596
rs752933596
1.000 0.080 6 45438020 missense variant A/T snv
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
0.700 1.000 18 1997 2018