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: rs215605
rs215605
PDE1C
1.000 0.040 7 32297353 intron variant G/T snv 0.54
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2016 2016
dbSNP: rs222016
rs222016
GC
0.882 0.120 4 71769258 intron variant G/A snv 0.72
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs2234663
rs2234663
IL1RN
0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs2237028
rs2237028
KIT
1.000 0.040 4 54670209 intron variant T/G snv 0.44
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs2282679
rs2282679
GC
0.645 0.480 4 71742666 intron variant T/G snv 0.21
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2014 2014
dbSNP: rs2733832
rs2733832
TYRP1 ; LURAP1L-AS1
1.000 0.040 9 12704725 intron variant C/A;G;T snv 8.0E-06; 0.45
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs2853676
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs2981096
rs2981096
TERF1
1.000 0.040 8 73027927 intron variant A/G snv 3.1E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs3024493
rs3024493
IL10 ; IL19
0.776 0.280 1 206770623 intron variant C/A;T snv 0.11
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs35414
rs35414
SLC45A2
1.000 0.040 5 33969523 intron variant T/C snv 0.45
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs4646536
rs4646536
CYP27B1
0.724 0.440 12 57764205 intron variant A/G snv 0.38 0.32
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2012 2012
dbSNP: rs4698934
rs4698934
TET2 ; TET2-AS1
1.000 0.040 4 105218230 intron variant T/C snv 0.12
CUI: C0025202
Disease: melanoma
melanoma 		0.810 1.000 1 2014 2014
dbSNP: rs4845618
rs4845618
IL6R
0.851 0.160 1 154427539 intron variant G/T snv 0.53
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs4845622
rs4845622
IL6R
1.000 0.040 1 154438943 intron variant A/C snv 0.32
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs62068372
rs62068372
VPS9D1 ; ZNF276
0.925 0.080 16 89718699 intron variant T/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs6431588
rs6431588
ILKAP
0.925 0.040 2 238185147 intron variant T/C;G snv 0.86 0.85
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2014 2014
dbSNP: rs6465657
rs6465657
LMTK2
0.807 0.280 7 98187015 intron variant C/T snv 0.41 0.37
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs6684439
rs6684439
IL6R
0.925 0.080 1 154423363 intron variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs6707820
rs6707820
NCK2
1.000 0.040 2 105809256 intron variant C/T snv 0.25
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2017 2017
dbSNP: rs7023329
rs7023329
MTAP
0.790 0.160 9 21816529 intron variant A/G snv 0.50
CUI: C0025202
Disease: melanoma
melanoma 		0.810 1.000 1 2009 2017
dbSNP: rs7513548
rs7513548
CHD5
1.000 0.040 1 6136457 intron variant G/A snv 0.42
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs7538876
rs7538876
PADI6
0.807 0.120 1 17395867 intron variant G/A snv 0.37
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs75570604
rs75570604
FANCA
0.851 0.080 16 89780269 intron variant G/C snv 4.7E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs7944031
rs7944031
TEAD1
0.925 0.080 11 12907573 intron variant A/G snv 0.21
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015