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: rs104893991
rs104893991
0.925 0.120 6 45438040 missense variant G/A snv
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
0.820 1.000 20 1997 2018
dbSNP: rs104893991
rs104893991
0.925 0.120 6 45438040 missense variant G/A snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
0.010 1.000 1 2014 2014