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: rs1555913934
rs1555913934
CHEK2
1.000 0.160 22 28695868 frameshift variant AG/- del
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.700 1.000 22 1999 2014