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: rs587782719
rs587782719
ATM ; C11orf65
0.882 0.240 11 108335080 missense variant G/A;C;T snv 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 11 2006 2017
dbSNP: rs587782719
rs587782719
ATM ; C11orf65
0.882 0.240 11 108335080 missense variant G/A;C;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2006 2013
dbSNP: rs587782719
rs587782719
ATM ; C11orf65
0.882 0.240 11 108335080 missense variant G/A;C;T snv 4.0E-06
CUI: C0023798
Disease: Lipoma
Lipoma 		0.700 0
dbSNP: rs587782719
rs587782719
ATM ; C11orf65
0.882 0.240 11 108335080 missense variant G/A;C;T snv 4.0E-06
CUI: C0029440
Disease: Osteoma
Osteoma 		0.700 0