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: rs878853647
rs878853647
0.882 0.120 9 21971099 missense variant C/G;T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.710 1.000 1 1994 2013
dbSNP: rs104894097
rs104894097
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
0.851 0.200 9 21970982 missense variant A/T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.710 1.000 1 1995 2013
dbSNP: rs771138120
rs771138120
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
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: rs104894104
rs104894104
0.790 0.160 9 21971019 missense variant G/A;T snv
CUI: C0017638
Disease: Glioma
Glioma
0.010 1.000 1 1997 1997
dbSNP: rs1554653960
rs1554653960
0.925 0.040 9 21971007 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma
0.010 1.000 1 1997 1997
dbSNP: rs34886500
rs34886500
0.925 0.080 9 21971064 missense variant G/A;C snv
CUI: C0025202
Disease: melanoma
melanoma
0.010 1.000 1 1997 1997
dbSNP: rs3731249
rs3731249
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 1.000 3 1998 2019
dbSNP: rs1309566180
rs1309566180
1.000 0.080 9 21971170 missense variant C/T snv
CUI: C0032131
Disease: Plasmacytoma
Plasmacytoma
0.010 1.000 1 1998 1998
dbSNP: rs104894094
rs104894094
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: rs104894098
rs104894098
0.851 0.200 9 21970982 missense variant A/T snv
CUI: C0025202
Disease: melanoma
melanoma
0.050 1.000 5 1999 2015
dbSNP: rs559848002
rs559848002
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
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
0.882 0.120 9 21971099 missense variant C/G;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.020 1.000 2 1999 2013
dbSNP: rs11552823
rs11552823
1.000 0.040 9 21971117 missense variant G/A;C snv 4.3E-06
CUI: C0025202
Disease: melanoma
melanoma
0.010 1.000 1 1999 1999
dbSNP: rs34886500
rs34886500
0.925 0.080 9 21971064 missense variant G/A;C snv
Familial Atypical Mole Melanoma Syndrome
0.010 1.000 1 1999 1999
dbSNP: rs774829510
rs774829510
0.882 0.040 9 21971046 missense variant C/A;T snv
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.010 1.000 1 1999 1999
dbSNP: rs774829510
rs774829510
0.882 0.040 9 21971046 missense variant C/A;T snv
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma
0.010 1.000 1 1999 1999
dbSNP: rs774829510
rs774829510
0.882 0.040 9 21971046 missense variant C/A;T snv
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
0.010 1.000 1 1999 1999
dbSNP: rs1277299943
rs1277299943
9 21974817 missense variant G/C snv 1.3E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2001 2001
dbSNP: rs1329443726
rs1329443726
1.000 0.080 9 21971097 frameshift variant C/- delins
CUI: C0025286
Disease: Meningioma
Meningioma
0.010 1.000 1 2001 2001
dbSNP: rs771138120
rs771138120
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06
CUI: C0260037
Disease: Multiple tumors
Multiple tumors
0.010 1.000 1 2001 2001
dbSNP: rs771138120
rs771138120
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.010 1.000 1 2001 2001
dbSNP: rs878853645
rs878853645
1.000 0.040 9 21971176 missense variant C/G snv
CUI: C0025202
Disease: melanoma
melanoma
0.010 1.000 1 2001 2001