Source: CLINVAR

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: rs1567549584
rs1567549584
0.925 0.120 17 7674245 missense variant T/C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.700 0
dbSNP: rs1567549584
rs1567549584
0.925 0.120 17 7674245 missense variant T/C snv
Squamous cell carcinoma of the head and neck
0.700 0