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: rs28934574
rs28934574
0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
0.700 0
dbSNP: rs28934574
rs28934574
0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma
0.700 0