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: rs760146707
rs760146707
RAD50
1.000 0.200 5 132579997 frameshift variant T/- del 4.1E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 2003 2015
dbSNP: rs760146707
rs760146707
RAD50
1.000 0.200 5 132579997 frameshift variant T/- del 4.1E-04
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 1.000 4 2003 2015