rs104894097
|
|
0.807 |
0.240 |
9 |
21974757 |
missense variant
|
C/A;G;T
|
snv
|
1.7E-05;
1.3E-05
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
19 |
1995 |
2015 |
rs104894095
|
|
0.827 |
0.120 |
9 |
21971200 |
missense variant
|
C/G;T
|
snv
|
9.0E-06
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
16 |
1995 |
2010 |
rs104894097
|
|
0.807 |
0.240 |
9 |
21974757 |
missense variant
|
C/A;G;T
|
snv
|
1.7E-05;
1.3E-05
|
|
Hereditary Melanoma
|
0.700 |
1.000 |
16 |
1995 |
2015 |
rs730881674
|
|
1.000 |
0.120 |
9 |
21971116 |
frameshift variant
|
GTGAGAGTGGCGGGGTCGG/-
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
15 |
1995 |
2015 |
rs878853650
|
|
0.925 |
0.120 |
9 |
21974733 |
missense variant
|
A/G
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
15 |
1995 |
2010 |
rs199907548
|
|
0.882 |
0.160 |
9 |
21974682 |
missense variant
|
A/C;G
|
snv
|
6.3E-04
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
14 |
1994 |
2016 |
rs768966657
|
|
1.000 |
0.120 |
9 |
21971021 |
inframe insertion
|
-/ACG
|
delins
|
1.3E-05
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
14 |
1996 |
2016 |
rs104894097
|
|
0.807 |
0.240 |
9 |
21974757 |
missense variant
|
C/A;G;T
|
snv
|
1.7E-05;
1.3E-05
|
|
MELANOMA-PANCREATIC CANCER SYNDROME
|
0.700 |
1.000 |
13 |
1998 |
2016 |
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
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
13 |
1999 |
2016 |
rs587780668
|
|
0.925 |
0.120 |
9 |
21974796 |
start lost
|
GGCTCCATGCTGCTCCCCGCCGCC/-;GGCTCCATGCTGCTCCCCGCCGCCGGCTCCATGCTGCTCCCCGCCGCC
|
delins
|
1.5E-04
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
13 |
1995 |
2015 |
rs104894094
|
|
0.763 |
0.200 |
9 |
21971058 |
missense variant
|
C/A;G;T
|
snv
|
8.5E-06;
4.3E-06
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
0.800 |
1.000 |
12 |
1994 |
2009 |
rs104894095
|
|
0.827 |
0.120 |
9 |
21971200 |
missense variant
|
C/G;T
|
snv
|
9.0E-06
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
0.800 |
1.000 |
12 |
1994 |
2009 |
rs104894095
|
|
0.827 |
0.120 |
9 |
21971200 |
missense variant
|
C/G;T
|
snv
|
9.0E-06
|
|
Hereditary Melanoma
|
0.700 |
1.000 |
12 |
1995 |
2015 |
rs104894097
|
|
0.807 |
0.240 |
9 |
21974757 |
missense variant
|
C/A;G;T
|
snv
|
1.7E-05;
1.3E-05
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
0.800 |
1.000 |
12 |
1994 |
2009 |
rs104894098
|
|
0.851 |
0.200 |
9 |
21970982 |
missense variant
|
A/T
|
snv
|
|
|
MELANOMA-PANCREATIC CANCER SYNDROME
|
0.700 |
1.000 |
12 |
1994 |
2015 |
rs104894098
|
|
0.851 |
0.200 |
9 |
21970982 |
missense variant
|
A/T
|
snv
|
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
0.800 |
1.000 |
12 |
1994 |
2009 |
rs104894099
|
|
0.851 |
0.200 |
9 |
21971183 |
missense variant
|
A/C;T
|
snv
|
4.6E-06
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
0.800 |
1.000 |
12 |
1994 |
2009 |
rs11552822
|
|
1.000 |
|
9 |
21971109 |
missense variant
|
C/A;T
|
snv
|
4.3E-06
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
0.700 |
1.000 |
12 |
1994 |
2009 |
rs137854597
|
|
1.000 |
|
9 |
21971094 |
missense variant
|
C/T
|
snv
|
4.3E-06
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
0.800 |
1.000 |
12 |
1994 |
2009 |
rs137854599
|
|
0.882 |
0.080 |
9 |
21971093 |
missense variant
|
C/G;T
|
snv
|
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
0.800 |
1.000 |
12 |
1994 |
2009 |
rs1554653960
|
|
0.925 |
0.040 |
9 |
21971007 |
missense variant
|
C/T
|
snv
|
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
0.700 |
1.000 |
12 |
1994 |
2009 |
rs372670098
|
|
|
|
9 |
21971153 |
missense variant
|
T/C
|
snv
|
9.5E-06
|
2.8E-05
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
12 |
1998 |
2015 |
rs559848002
|
|
0.925 |
0.120 |
9 |
21971147 |
missense variant
|
T/C;G
|
snv
|
4.7E-06
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
12 |
1994 |
2011 |
rs587778189
|
|
1.000 |
|
9 |
21974679 |
missense variant
|
T/A;C;G
|
snv
|
4.0E-06;
4.0E-06
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
0.700 |
1.000 |
12 |
1994 |
2009 |
rs746834149
|
|
1.000 |
|
9 |
21974724 |
missense variant
|
C/A;G;T
|
snv
|
4.1E-06;
1.2E-05
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
0.700 |
1.000 |
12 |
1994 |
2009 |