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: rs1247689593
rs1247689593
RAD50
1.000 0.200 5 132588728 stop gained C/G;T snv 4.0E-06 7.0E-06
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 1.000 1 2016 2016
dbSNP: rs1247689593
rs1247689593
RAD50
1.000 0.200 5 132588728 stop gained C/G;T snv 4.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2016 2016