rs104894097
|
0.807 |
0.240 |
9 |
21974757 |
missense variant |
C/A;G;T
|
snv
|
1.7E-05;
1.3E-05
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
16 |
1995 |
2015 |
rs104894095
|
0.827 |
0.120 |
9 |
21971200 |
missense variant |
C/G;T
|
snv
|
9.0E-06
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
12 |
1995 |
2015 |
rs749714198
|
0.882 |
0.200 |
9 |
21971100 |
missense variant |
G/A
|
snv
|
8.6E-06
|
7.0E-06
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
12 |
1994 |
2016 |
rs1554653956
|
1.000 |
0.120 |
9 |
21971004 |
frameshift variant |
CCAGGTCCACGGGCAG/-
|
delins
|
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
11 |
1995 |
2016 |
rs104894109
|
0.925 |
0.120 |
9 |
21971192 |
missense variant |
C/A;T
|
snv
|
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
10 |
1998 |
2014 |
rs104894099
|
0.851 |
0.200 |
9 |
21971183 |
missense variant |
A/C;T
|
snv
|
4.6E-06
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
9 |
1998 |
2016 |
rs587780668
|
0.925 |
0.120 |
9 |
21974796 |
start lost |
GGCTCCATGCTGCTCCCCGCCGCC/-;GGCTCCATGCTGCTCCCCGCCGCCGGCTCCATGCTGCTCCCCGCCGCC
|
delins
|
1.5E-04
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
9 |
1995 |
2015 |
rs878853647
|
0.882 |
0.120 |
9 |
21971099 |
missense variant |
C/G;T
|
snv
|
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
9 |
1994 |
2013 |
rs1800586
|
0.851 |
0.240 |
9 |
21974861 |
5 prime UTR variant |
C/A;G;T
|
snv
|
4.3E-05;
6.1E-05;
8.7E-06
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
8 |
1999 |
2010 |
rs45476696
|
0.925 |
0.200 |
9 |
21970902 |
stop gained |
C/A;T
|
snv
|
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
8 |
1998 |
2015 |
rs559848002
|
0.925 |
0.120 |
9 |
21971147 |
missense variant |
T/C;G
|
snv
|
4.7E-06
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
8 |
1994 |
2012 |
rs730881675
|
0.925 |
0.200 |
9 |
21971106 |
frameshift variant |
TCGTGCACGGGTCG/-
|
delins
|
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
8 |
1994 |
2011 |
rs754806883
|
0.925 |
0.160 |
9 |
21971063 |
missense variant |
C/A;G;T
|
snv
|
4.3E-06;
8.5E-06
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
8 |
1947 |
2014 |
rs878853650
|
0.925 |
0.120 |
9 |
21974733 |
missense variant |
A/G
|
snv
|
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
8 |
1995 |
2017 |
rs104894094
|
0.763 |
0.200 |
9 |
21971058 |
missense variant |
C/A;G;T
|
snv
|
8.5E-06;
4.3E-06
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
2000 |
2011 |
rs104894098
|
0.851 |
0.200 |
9 |
21970982 |
missense variant |
A/T
|
snv
|
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
7 |
1995 |
2013 |
rs1064794292
|
0.882 |
0.200 |
9 |
21974760 |
missense variant |
C/T
|
snv
|
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
1998 |
2014 |
rs1563889584
|
1.000 |
0.120 |
9 |
21971121 |
frameshift variant |
G/-
|
delins
|
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
1994 |
2011 |
rs768966657
|
1.000 |
0.120 |
9 |
21971021 |
inframe insertion |
-/ACG
|
delins
|
1.3E-05
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
1996 |
2016 |
rs864622263
|
1.000 |
0.120 |
9 |
21974781 |
missense variant |
A/C;T
|
snv
|
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
2004 |
2011 |
rs864622636
|
1.000 |
0.120 |
9 |
21974680 |
stop gained |
G/A;T
|
snv
|
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
1996 |
2015 |
rs1554656411
|
1.000 |
0.120 |
9 |
21974749 |
stop gained |
C/A
|
snv
|
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
6 |
2004 |
2017 |
rs141798398
|
1.000 |
0.120 |
9 |
21974793 |
stop gained |
G/A;T
|
snv
|
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
5 |
2004 |
2017 |
rs1060501266
|
1.000 |
0.120 |
9 |
21968347 |
intron variant |
T/C
|
snv
|
|
7.0E-06
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
2001 |
2012 |
rs1131691187
|
1.000 |
0.120 |
9 |
21974696 |
frameshift variant |
G/-
|
del
|
|
|
Hereditary Melanoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
2004 |
2016 |