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: rs775899653
rs775899653
ATM ; C11orf65
11 108343231 frameshift variant TCTC/-;TC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 1996 2009
dbSNP: rs587782847
rs587782847
ATM ; C11orf65
11 108365382 frameshift variant AACTGAAAGGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2003 2017
dbSNP: rs876660743
rs876660743
ATM ; C11orf65
11 108333941 inframe deletion TGT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 1999 2011
dbSNP: rs587782114
rs587782114
ATM ; C11orf65
11 108317500 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2008 2015
dbSNP: rs876658415
rs876658415
ATM ; C11orf65
11 108315872 missense variant A/G snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2001 2012
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: rs1282099124
rs1282099124
ATM ; C11orf65
11 108326163 stop gained C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2003 2006
dbSNP: rs529296539
rs529296539
ATM ; C11orf65
11 108345819 missense variant G/A;C;T snv 1.2E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1998 2009
dbSNP: rs753011366
rs753011366
ATM
11 108294992 frameshift variant -/CT ins 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1996 2000
dbSNP: rs771342315
rs771342315
ATM
11 108235700 stop gained T/A snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2005 2011
dbSNP: rs773516672
rs773516672
ATM ; C11orf65
11 108330355 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1998 1998
dbSNP: rs876658831
rs876658831
ATM ; C11orf65
11 108310168 stop gained C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2000 2015
dbSNP: rs876659235
rs876659235
ATM ; C11orf65
11 108365340 frameshift variant T/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2006 2007
dbSNP: rs886038217
rs886038217
ATM
11 108289762 missense variant GA/CG mnv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2003 2015
dbSNP: rs1131691254
rs1131691254
ATM ; C11orf65
11 108310176 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2016 2016
dbSNP: rs1555066551
rs1555066551
ATM
11 108244108 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2016 2016
dbSNP: rs1555106508
rs1555106508
ATM
11 108302968 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 1999 1999
dbSNP: rs200976093
rs200976093
ATM
11 108284411 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2012 2012
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: rs227073
rs227073
ATM ; C11orf65
11 108341965 intron variant G/A;C;T snv
CUI: C3547187
Disease: response to metformin
response to metformin 		0.700 1.000 1 2011 2011
dbSNP: rs228591
rs228591
ATM
11 108226606 5 prime UTR variant A/G snv 0.54
CUI: C3547187
Disease: response to metformin
response to metformin 		0.700 1.000 1 2011 2011
dbSNP: rs228593
rs228593
ATM
11 108270407 intron variant G/A snv 0.27
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2016 2016
dbSNP: rs3218688
rs3218688
ATM
11 108268595 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3218688
rs3218688
ATM
11 108268595 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3218688
rs3218688
ATM
11 108268595 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012