Source: CURATED

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: rs121909232
rs121909232
PTEN
0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs121909233
rs121909233
PTEN ; KLLN
1.000 0.040 10 87864524 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0
dbSNP: rs121909234
rs121909234
PTEN
1.000 0.040 10 87957867 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0
dbSNP: rs121913323
rs121913323
STK11
1.000 0.040 19 1220416 stop gained C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs137853080
rs137853080
STK11
1.000 0.040 19 1207058 missense variant T/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0
dbSNP: rs137853081
rs137853081
STK11
1.000 0.040 19 1219352 missense variant G/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0
dbSNP: rs180177132
rs180177132
PALB2
0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs193922219
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs200476704
rs200476704
KCNAB3 ; TRAPPC1 ; CNTROB
1.000 0.040 17 7930659 stop gained G/A;C snv 2.4E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs36204594
rs36204594
CDKN2A
1.000 0.040 9 21971180 missense variant G/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs45580035
rs45580035
BRCA2
0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs587779826
rs587779826
ATM
0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs80358683
rs80358683
BRCA2
0.851 0.120 13 32338880 stop gained C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs80359204
rs80359204
BRCA2
1.000 0.040 13 32394741 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
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: rs104894340
rs104894340
CDK4
0.827 0.200 12 57751647 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.740 0.600 1 2003 2014
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 2 2008 2017
dbSNP: rs16891982
rs16891982
SLC45A2
0.776 0.200 5 33951588 missense variant C/A;G snv 0.65
CUI: C0025202
Disease: melanoma
melanoma 		0.750 0.833 1 2008 2017
dbSNP: rs1805007
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0.938 1 2001 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0.979 30 2002 2020
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0.981 19 2002 2020
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 22 2002 2020
dbSNP: rs121913517
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 18 1995 2014
dbSNP: rs11554290
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 16 1989 2019