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: rs10492396
rs10492396
BRCA2
0.925 0.080 13 32384750 non coding transcript exon variant G/A snv 4.8E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs11571833
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2016 2016
dbSNP: rs1799944
rs1799944
BRCA2
0.882 0.080 13 32337326 missense variant A/G snv 5.4E-02 4.5E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2008 2008
dbSNP: rs206118
rs206118
BRCA2
0.925 0.080 13 32315655 5 prime UTR variant A/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs759851035
rs759851035
BRCA2
1.000 0.040 13 32394766 missense variant G/A snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2018 2018
dbSNP: rs886040456
rs886040456
BRCA2
0.882 0.200 13 32337325 frameshift variant AACAAATGGGCAG/- delins
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2008 2008
dbSNP: rs13006529
rs13006529
CASP10
0.851 0.080 2 201217736 missense variant T/A snv 0.41 0.42
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs3834129
rs3834129
CASP8
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs781198499
rs781198499
CAST ; ERAP1
1.000 0.040 5 96765321 missense variant T/A;C snv 7.1E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs11547328
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.100 1.000 11 1997 2016
dbSNP: rs104894340
rs104894340
CDK4
0.827 0.200 12 57751647 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.740 0.600 4 2003 2014
dbSNP: rs143670820
rs143670820
CDK4 ; TSPAN31 ; MIR6759
1.000 0.040 12 57749249 missense variant G/C;T snv 5.2E-05; 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs866551255
rs866551255
CDKN1A
1.000 0.040 6 36684145 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 1998 1998
dbSNP: rs766310650
rs766310650
CDKN1A ; DINOL
1.000 0.040 6 36677906 5 prime UTR variant T/C snv 6.2E-05 2.1E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2001 2001
dbSNP: rs104894094
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 10 1999 2016
dbSNP: rs771138120
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.070 1.000 7 1997 2015
dbSNP: rs104894095
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.060 1.000 6 1997 2007
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.060 0.667 6 2002 2011
dbSNP: rs104894097
rs104894097
CDKN2A
0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.750 1.000 5 1995 2015
dbSNP: rs104894098
rs104894098
CDKN2A
0.851 0.200 9 21970982 missense variant A/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.050 1.000 5 1999 2015
dbSNP: rs786204195
rs786204195
CDKN2A
0.851 0.200 9 21974686 missense variant G/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.030 0.667 3 2006 2008
dbSNP: rs104894099
rs104894099
CDKN2A
0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2003 2010
dbSNP: rs559848002
rs559848002
CDKN2A
0.925 0.120 9 21971147 missense variant T/C;G snv 4.7E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 1999 2015
dbSNP: rs759763964
rs759763964
CDKN2A
0.925 0.120 9 21971142 missense variant C/G;T snv 1.4E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 1999 2013
dbSNP: rs878853647
rs878853647
CDKN2A
0.882 0.120 9 21971099 missense variant C/G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 1999 2013