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: rs730881346
rs730881346
ATM
0.925 0.280 11 108257471 intron variant T/G snv 8.0E-06 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 7 1998 2016
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: rs664677
rs664677
ATM
0.807 0.160 11 108272455 intron variant C/A;T snv 0.65
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.030 1.000 3 2012 2017
dbSNP: rs664677
rs664677
ATM
0.807 0.160 11 108272455 intron variant C/A;T snv 0.65
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.030 1.000 3 2012 2017
dbSNP: rs664677
rs664677
ATM
0.807 0.160 11 108272455 intron variant C/A;T snv 0.65
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 1.000 3 2012 2017
dbSNP: rs1131691154
rs1131691154
ATM
11 108268026 intron variant A/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2012 2014
dbSNP: rs228589
rs228589
ATM ; NPAT
0.925 0.080 11 108222481 intron variant A/T snv 0.58 0.54
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2006 2007
dbSNP: rs228589
rs228589
ATM ; NPAT
0.925 0.080 11 108222481 intron variant A/T snv 0.58 0.54
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2006 2007
dbSNP: rs587776552
rs587776552
ATM
1.000 0.200 11 108270483 intron variant AAGT/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 2 2002 2004
dbSNP: rs1003623
rs1003623
ATM
0.925 0.080 11 108281855 intron variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2007 2007
dbSNP: rs1003623
rs1003623
ATM
0.925 0.080 11 108281855 intron variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs11212592
rs11212592
ATM ; C11orf65
0.882 0.080 11 108348120 intron variant A/G snv 0.16
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2018 2018
dbSNP: rs11212592
rs11212592
ATM ; C11orf65
0.882 0.080 11 108348120 intron variant A/G snv 0.16
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2018 2018
dbSNP: rs11212592
rs11212592
ATM ; C11orf65
0.882 0.080 11 108348120 intron variant A/G snv 0.16
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2018 2018
dbSNP: rs141379009
rs141379009
ATM
1.000 11 108278480 intron variant T/G snv 1.7E-02
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.700 1.000 1 2018 2018
dbSNP: rs141379009
rs141379009
ATM
1.000 11 108278480 intron variant T/G snv 1.7E-02
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 1 2018 2018
dbSNP: rs170548
rs170548
ATM ; C11orf65
1.000 0.080 11 108364109 intron variant A/C;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs17503908
rs17503908
ATM ; C11orf65
1.000 0.080 11 108344670 intron variant T/G snv 6.7E-02
CUI: C1853195
Disease: Prostate Cancer, Hereditary, 7
Prostate Cancer, Hereditary, 7 		0.010 1.000 1 2014 2014
dbSNP: rs17503908
rs17503908
ATM ; C11orf65
1.000 0.080 11 108344670 intron variant T/G snv 6.7E-02
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 1.000 1 2011 2011
dbSNP: rs227041
rs227041
ATM ; C11orf65
11 108352074 intron variant C/A snv 0.52
CUI: C3547187
Disease: response to metformin
response to metformin 		0.700 1.000 1 2011 2011
dbSNP: rs227060
rs227060
ATM ; C11orf65
0.882 0.160 11 108334154 intron variant C/T snv 0.27
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs227060
rs227060
ATM ; C11orf65
0.882 0.160 11 108334154 intron variant C/T snv 0.27
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 1.000 1 2011 2011
dbSNP: rs227060
rs227060
ATM ; C11orf65
0.882 0.160 11 108334154 intron variant C/T snv 0.27
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.010 1.000 1 2014 2014
dbSNP: rs227061
rs227061
ATM ; C11orf65
1.000 0.040 11 108334602 intron variant A/G snv 0.52
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2008 2008