Source: ALL

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: 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: rs267600971
rs267600971
CYP21A2 ; DXO ; STK19
0.882 0.080 6 31972346 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs397507482
rs397507482
BRAF
0.882 0.040 7 140753386 missense variant A/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs4950928
rs4950928
CHI3L1
0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs749499406
rs749499406
ACD
1.000 0.040 16 67658771 missense variant C/T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
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: rs869329
rs869329
MTAP
0.851 0.080 9 21804694 intron variant A/G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs869330
rs869330
MTAP
0.925 0.080 9 21804618 intron variant A/G snv 0.62
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs947005337
rs947005337
POT1
0.925 0.120 7 124870933 missense variant A/G snv 1.6E-05 1.4E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs121913368
rs121913368
BRAF
0.925 0.040 7 140753345 missense variant AG/GA mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 13 2002 2018
dbSNP: rs121913492
rs121913492
GNAQ
0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.740 1.000 12 1989 2018
dbSNP: rs1057519742
rs1057519742
GNA11
0.827 0.160 19 3118944 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.750 1.000 9 1989 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0025202
Disease: melanoma
melanoma 		0.080 0.875 8 2005 2018
dbSNP: rs1805009
rs1805009
MC1R ; TUBB3
0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.070 0.857 7 2001 2018
dbSNP: rs1057519853
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.030 1.000 3 2012 2018
dbSNP: rs1799793
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0025202
Disease: melanoma
melanoma 		0.030 1.000 3 2005 2018
dbSNP: rs11551405
rs11551405
DCP1A ; LOC107986087
1.000 0.040 3 53284850 3 prime UTR variant C/A snv 0.16
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2016 2018
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 2 2016 2018
dbSNP: rs121913240
rs121913240
KRAS
0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2016 2018
dbSNP: rs121913375
rs121913375
BRAF
0.851 0.240 7 140753339 missense variant G/A;C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 2 2014 2018
dbSNP: rs121913499
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2010 2018
dbSNP: rs1278609613
rs1278609613
EDNRA
1.000 0.040 4 147542604 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2009 2018
dbSNP: rs1382979668
rs1382979668
USP28
1.000 0.040 11 113809254 missense variant T/A snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2016 2018
dbSNP: rs1449409868
rs1449409868
SSTR4
0.925 0.040 20 23035958 missense variant C/A;T snv 4.1E-06; 4.1E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2009 2018
dbSNP: rs770374782
rs770374782
TP53
0.851 0.160 17 7673752 missense variant G/A;C snv 1.2E-05 4.2E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2010 2018