|
rs121913514
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
[Secondary mutation of c-kit/PDGFRα genotypes after imatinib mesylate therapy and its relationship with efficacy of sunitinib].
|
22932406 |
2012 |
|
rs121913523
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
[Secondary mutation of c-kit/PDGFRα genotypes after imatinib mesylate therapy and its relationship with efficacy of sunitinib].
|
22932406 |
2012 |
|
rs121913523
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
[Secondary mutation of c-kit/PDGFRα genotypes after imatinib mesylate therapy and its relationship with efficacy of sunitinib].
|
22932406 |
2012 |
|
rs121913366
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
[Long-term results following surgery or radioiodine treatment of solitary autonomous adenoma of the thyroid gland].
|
2493360 |
1989 |
|
rs1695
|
|
|
0.050 |
GeneticVariation |
BEFREE |
XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro), and GSTP1 (Ile105Val) polymorphisms in prognosis of cutaneous melanoma.
|
26427666 |
2016 |
|
rs121912654
|
|
|
0.020 |
GeneticVariation |
BEFREE |
XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro), and GSTP1 (Ile105Val) polymorphisms in prognosis of cutaneous melanoma.
|
26427666 |
2016 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro), and GSTP1 (Ile105Val) polymorphisms in prognosis of cutaneous melanoma.
|
26427666 |
2016 |
|
rs1131691014
|
|
|
0.100 |
GeneticVariation |
BEFREE |
XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro), and GSTP1 (Ile105Val) polymorphisms in prognosis of cutaneous melanoma.
|
26427666 |
2016 |
|
rs878854066
|
|
|
0.100 |
GeneticVariation |
BEFREE |
XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro), and GSTP1 (Ile105Val) polymorphisms in prognosis of cutaneous melanoma.
|
26427666 |
2016 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
With the discovery of (V600E)BRAF in about 50% of cutaneous melanomas, there was an increased effort to find additional mutations.
|
23489578 |
2013 |
|
rs121913377
|
|
|
0.800 |
GeneticVariation |
BEFREE |
With the discovery of (V600E)BRAF in about 50% of cutaneous melanomas, there was an increased effort to find additional mutations.
|
23489578 |
2013 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
With respect to the B-raf protein sequence, the V599E mutation was predicted in 63% of these positive melanomas, followed in frequency by the V599K transition (31%).
|
15331929 |
2004 |
|
rs121913377
|
|
|
0.800 |
GeneticVariation |
BEFREE |
With respect to the B-raf protein sequence, the V599E mutation was predicted in 63% of these positive melanomas, followed in frequency by the V599K transition (31%).
|
15331929 |
2004 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
With regard to the frequency of V599E BRAF mutations, AM significantly differs from CM (P < or = .0001), which suggests that BRAF mutations distinguish anorectal from cutaneous melanoma at the molecular level.
|
15578519 |
2004 |
|
rs121913377
|
|
|
0.800 |
GeneticVariation |
BEFREE |
With regard to the frequency of V599E BRAF mutations, AM significantly differs from CM (P < or = .0001), which suggests that BRAF mutations distinguish anorectal from cutaneous melanoma at the molecular level.
|
15578519 |
2004 |
|
rs267599211
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whole exome sequencing identifies a recurrent RQCD1 P131L mutation in cutaneous melanoma.
|
25544760 |
2015 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
While under normoxic conditions the expression of glycolysis-related genes showed no correlation with origin or BRAF mutation status, GLUT1 expression was significantly elevated in metastatic and BRAF-V600E mutated melanoma cell lines under hypoxic conditions.
|
31791701 |
2020 |
|
rs121913377
|
|
|
0.800 |
GeneticVariation |
BEFREE |
While under normoxic conditions the expression of glycolysis-related genes showed no correlation with origin or BRAF mutation status, GLUT1 expression was significantly elevated in metastatic and BRAF-V600E mutated melanoma cell lines under hypoxic conditions.
|
31791701 |
2020 |
|
rs763538721
|
|
|
0.040 |
GeneticVariation |
BEFREE |
While under normoxic conditions the expression of glycolysis-related genes showed no correlation with origin or BRAF mutation status, GLUT1 expression was significantly elevated in metastatic and BRAF-V600E mutated melanoma cell lines under hypoxic conditions.
|
31791701 |
2020 |
|
rs3803185
|
|
|
0.010 |
GeneticVariation |
BEFREE |
While ARLTS1 Trp149Stop did not influence melanoma risk (OR = 0.83, 95% CI = 0.37-1.88, p = 0.65), Cys148Arg revealed a statistically significant association with an increased risk for heterozygous carriers (OR = 1.43, 95% CI = 1.05-1.95, p = 0.02).
|
16646072 |
2006 |
|
rs34301344
|
|
|
0.020 |
GeneticVariation |
BEFREE |
While ARLTS1 Trp149Stop did not influence melanoma risk (OR = 0.83, 95% CI = 0.37-1.88, p = 0.65), Cys148Arg revealed a statistically significant association with an increased risk for heterozygous carriers (OR = 1.43, 95% CI = 1.05-1.95, p = 0.02).
|
16646072 |
2006 |
|
rs755100942
|
|
|
0.010 |
GeneticVariation |
BEFREE |
While ARLTS1 Trp149Stop did not influence melanoma risk (OR = 0.83, 95% CI = 0.37-1.88, p = 0.65), Cys148Arg revealed a statistically significant association with an increased risk for heterozygous carriers (OR = 1.43, 95% CI = 1.05-1.95, p = 0.02).
|
16646072 |
2006 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
When used alone or in combination with a specific inhibitor of the BRAF(V600E) oncogene, DHODH inhibition led to a marked decrease in melanoma growth both in vitro and in mouse xenograft studies.
|
21430780 |
2011 |
|
rs121913377
|
|
|
0.800 |
GeneticVariation |
BEFREE |
When used alone or in combination with a specific inhibitor of the BRAF(V600E) oncogene, DHODH inhibition led to a marked decrease in melanoma growth both in vitro and in mouse xenograft studies.
|
21430780 |
2011 |
|
rs1805009
|
|
|
0.070 |
GeneticVariation |
BEFREE |
When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type.
|
19755124 |
2009 |