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: rs774925473
rs774925473
ATM ; C11orf65
0.925 0.200 11 108309110 intron variant A/G snv 2.4E-05 4.2E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 10 1996 2015
dbSNP: rs774925473
rs774925473
ATM ; C11orf65
0.925 0.200 11 108309110 intron variant A/G snv 2.4E-05 4.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1996 2017
dbSNP: rs774925473
rs774925473
ATM ; C11orf65
0.925 0.200 11 108309110 intron variant A/G snv 2.4E-05 4.2E-05
CUI: C1876175
Disease: Ataxia-Telangiectasia Variant
Ataxia-Telangiectasia Variant 		0.700 0