Source: ALL

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: rs1555119834
rs1555119834
ATM ; C11orf65
0.882 0.280 11 108326116 frameshift variant -/T delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 1 1999 1999
dbSNP: rs1555119834
rs1555119834
ATM ; C11orf65
0.882 0.280 11 108326116 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 1999 1999
dbSNP: rs1555119834
rs1555119834
ATM ; C11orf65
0.882 0.280 11 108326116 frameshift variant -/T delins
CUI: C3501843
Disease: Nonmedullary Thyroid Carcinoma
Nonmedullary Thyroid Carcinoma 		0.700 0
dbSNP: rs1555119834
rs1555119834
ATM ; C11orf65
0.882 0.280 11 108326116 frameshift variant -/T delins
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.700 0