Source: BEFREE

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: rs587782292
rs587782292
ATM ; C11orf65
1.000 0.200 11 108365359 missense variant C/G;T snv 1.6E-05 2.1E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.810 1.000 1 1995 2017
dbSNP: rs587776551
rs587776551
ATM
1.000 0.200 11 108281168 missense variant G/A;T snv 1.6E-05 1.4E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.720 1.000 2 1996 2020
dbSNP: rs587779852
rs587779852
ATM ; C11orf65
0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.720 1.000 2 1999 2014
dbSNP: rs587779815
rs587779815
ATM
1.000 0.200 11 108250804 stop gained C/T snv 8.0E-06 1.4E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.710 1.000 1 1996 2016
dbSNP: rs587782652
rs587782652
ATM ; C11orf65
0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.710 1.000 1 1989 2019
dbSNP: rs770641163
rs770641163
ATM ; C11orf65
0.882 0.360 11 108365208 stop gained C/G;T snv 4.0E-06; 1.2E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.710 1.000 1 2003 2019
dbSNP: rs2234997
rs2234997
ATM
1.000 0.200 11 108235716 missense variant T/A snv 1.6E-02 6.1E-02
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2003 2003
dbSNP: rs376676328
rs376676328
ATM ; C11orf65
0.882 0.280 11 108353828 missense variant A/G snv 2.2E-04 1.8E-04
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2007 2007
dbSNP: rs730881394
rs730881394
ATM ; C11orf65
0.925 0.320 11 108310222 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2013 2013