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: rs9995
rs9995
OSGIN2 ; NBN
1.000 0.040 8 89933828 3 prime UTR variant A/G snv 0.32
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs9960018
rs9960018
DLGAP1
1.000 0.040 18 3793080 intron variant C/T snv 0.13
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs993022333
rs993022333
KIT
0.851 0.080 4 54733173 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2011 2011
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: rs927650
rs927650
CYP24A1
0.763 0.240 20 54156202 intron variant T/A;C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2012 2012
dbSNP: rs910873
rs910873
PIGU
0.882 0.160 20 34583968 intron variant G/A;C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.810 0.667 3 2008 2017
dbSNP: rs910871
rs910871
NCOA6
1.000 0.040 20 34745404 intron variant C/A snv 0.85
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs910532454
rs910532454
CXCR4
0.882 0.080 2 136115453 missense variant C/A;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2009 2009
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: rs885479
rs885479
MC1R
0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.070 0.714 7 2001 2019
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.100 0.900 10 2006 2017
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
dbSNP: rs878853645
rs878853645
CDKN2A
1.000 0.040 9 21971176 missense variant C/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2001 2001
dbSNP: rs876658511
rs876658511
CDKN2A
1.000 0.040 9 21971147 frameshift variant TGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACT/- delins
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2010 2010
dbSNP: rs876658220
rs876658220
CDKN2A
1.000 0.040 9 21971147 frameshift variant T/- delins
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
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: 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: rs869312757
rs869312757
BAP1
0.925 0.120 3 52405163 stop gained G/A;C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs869025608
rs869025608
MAP2K1
0.763 0.400 15 66435117 missense variant G/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2013 2013
dbSNP: rs868443937
rs868443937
ING1
1.000 0.040 13 110715751 missense variant G/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2004 2004
dbSNP: rs867185
rs867185
NBN
1.000 0.040 8 89962922 intron variant G/A snv 0.51
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
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: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0025202
Disease: melanoma
melanoma 		0.020 0.500 2 2010 2016
dbSNP: rs8192284
rs8192284
IL6R
0.724 0.720 1 154454494 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs8059973
rs8059973
DBNDD1
1.000 0.040 16 90013126 intron variant A/G snv 0.78
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2012 2012