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: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.020 1.000 2 2014 2017
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.020 1.000 2 2014 2017
dbSNP: rs1042713
rs1042713
ADRB2
0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2011 2011
dbSNP: rs11074938
rs11074938
CIITA
0.925 0.240 16 10912686 intron variant A/G snv 0.56
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2013 2013
dbSNP: rs1264320
rs1264320
DDR1
0.882 0.400 6 30893223 intron variant C/T snv 0.32 0.28
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2012 2012
dbSNP: rs12932187
rs12932187
CIITA ; LOC105371080
0.925 0.320 16 10878023 intron variant C/G;T snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2013 2013
dbSNP: rs1415076775
rs1415076775
SACS
1.000 0.200 13 23339859 missense variant T/C snv 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2020 2020
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2005 2005
dbSNP: rs2097811
rs2097811
LOC107986774
1.000 0.200 7 19812416 downstream gene variant A/G snv 0.25
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2019 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: rs316021
rs316021
SLC22A2
1.000 0.200 6 160247009 intron variant C/T snv 0.70
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2011 2011
dbSNP: rs369252
rs369252
OBSCN
0.882 0.400 1 228344451 intron variant T/G snv 0.74
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2012 2012
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: rs3912161
rs3912161
SLC22A2
1.000 0.200 6 160248686 intron variant T/C snv 5.7E-02
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2009 2009
dbSNP: rs4647376
rs4647376
FANCC
0.925 0.400 9 95297574 intron variant T/G snv 0.72
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2012 2012
dbSNP: rs6962291
rs6962291
TBXAS1
1.000 0.200 7 139971318 intron variant T/A snv 0.36
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2011 2011
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
dbSNP: rs750893877
rs750893877
TP53
0.807 0.320 17 7674258 synonymous variant G/A snv 8.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2017 2017