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rs876661024
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|
A |
0.700 |
CausalMutation |
CLINVAR |
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rs121913507
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Recent studies show that most systemic mastocytosis (SM) patients, including indolent SM (ISM) with (ISMs+) and without skin lesions (ISMs-), carry the KIT D816V mutation in PB leukocytes.
|
29331029 |
2018 |
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rs121913682
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Recent studies show that most systemic mastocytosis (SM) patients, including indolent SM (ISM) with (ISMs+) and without skin lesions (ISMs-), carry the KIT D816V mutation in PB leukocytes.
|
29331029 |
2018 |
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rs113488022
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|
|
0.020 |
GeneticVariation |
BEFREE |
A patient with no cardiac history presented with a 6.5-mm skin lesion and was found to have metastatic BRAF V600E melanoma.
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28861837 |
2017 |
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rs121913377
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|
|
0.020 |
GeneticVariation |
BEFREE |
A patient with no cardiac history presented with a 6.5-mm skin lesion and was found to have metastatic BRAF V600E melanoma.
|
28861837 |
2017 |
|
rs113488022
|
|
|
0.020 |
GeneticVariation |
BEFREE |
BRAF(V600E) mutation immunostain, VE1 was positive in the skin lesion, which was confirmed by molecular polymerase chain reaction (PCR) studies, initiating a complete systemic workup for Erdheim-Chester disease.
|
26454140 |
2016 |
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rs121913377
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|
|
0.020 |
GeneticVariation |
BEFREE |
BRAF(V600E) mutation immunostain, VE1 was positive in the skin lesion, which was confirmed by molecular polymerase chain reaction (PCR) studies, initiating a complete systemic workup for Erdheim-Chester disease.
|
26454140 |
2016 |
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rs9527
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|
|
0.020 |
GeneticVariation |
BEFREE |
The G>A polymorphism (rs9527) having at least one minor allele 'A' was found to be significantly higher in cases compared to controls, implying increased risk toward the development of skin lesions.
|
27692299 |
2016 |
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rs121913507
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Overall, our results confirmed the presence of the KIT D816V mutation in peripheral blood of most systemic mastocytosis cases (161/190; 85%)--with an increasing frequency from indolent systemic mastocytosis without skin lesions (29/44; 66%) to indolent systemic mastocytosis with skin involvement (124/135; 92%), and more aggressive disease subtypes (11/11; 100%)--as assessed by the allele-specific oligonucleotide-qPCR method, which was more sensitive (P<.0001) than the peptide nucleic acid-mediated PCR approach (84/190; 44%).
|
26067933 |
2015 |
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rs121913682
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|
|
0.020 |
GeneticVariation |
BEFREE |
Overall, our results confirmed the presence of the KIT D816V mutation in peripheral blood of most systemic mastocytosis cases (161/190; 85%)--with an increasing frequency from indolent systemic mastocytosis without skin lesions (29/44; 66%) to indolent systemic mastocytosis with skin involvement (124/135; 92%), and more aggressive disease subtypes (11/11; 100%)--as assessed by the allele-specific oligonucleotide-qPCR method, which was more sensitive (P<.0001) than the peptide nucleic acid-mediated PCR approach (84/190; 44%).
|
26067933 |
2015 |
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rs9527
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|
|
0.020 |
GeneticVariation |
BEFREE |
In a follow-up analysis of 1,085 individuals with arsenic-induced premalignant skin lesions</span> (the classical sign of arsenic toxicity) and 1,794 controls, we show that one of these five variants (rs9527) is also associated with skin lesion risk (P = 0.0005).
|
22383894 |
2012 |
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rs61735836
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among 2,401 individuals with arsenic-induced skin lesions (an indicator of arsenic toxicity and cancer risk) and 2,472 controls, carrying the low-efficiency A allele (frequency = 7%) was associated with increased skin lesion risk (odds ratio = 1.35; P = 1x10-5). rs61735836 is in weak linkage disequilibrium with all nearby variants.
|
30893314 |
2019 |
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rs1001761
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interactions between SNPs and water As on skin lesion risk were suggestive for three variants: the G allele of MTRR rs1801394 and T allele of FOLR1 rs1540087 were associated with lower odds of skin lesions with lower As (≤50 μg/L), and the T allele of TYMS rs1001761 was associated with higher odds of skin lesions with higher As.
|
29421402 |
2018 |
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rs11191979
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|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, the haplotype CT between rs4925 and rs11191979 appeared to confer a high risk of arsenic-included skin lesions (OR = 1.377, 95% CI = 1.03-1.84), as did the haplotype GCG among rs156697, rs157077 and rs2297235 (OR = 2.197, 95% CI = 1.08-4.44).
|
29323258 |
2018 |
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rs1540087
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interactions between SNPs and water As on skin lesion risk were suggestive for three variants: the G allele of MTRR rs1801394 and T allele of FOLR1 rs1540087 were associated with lower odds of skin lesions with lower As (≤50 μg/L), and the T allele of TYMS rs1001761 was associated with higher odds of skin lesions with higher As.
|
29421402 |
2018 |
|
rs156697
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, the haplotype CT between rs4925 and rs11191979 appeared to confer a high risk of arsenic-included skin lesions (OR = 1.377, 95% CI = 1.03-1.84), as did the haplotype GCG among rs156697, rs157077 and rs2297235 (OR = 2.197, 95% CI = 1.08-4.44).
|
29323258 |
2018 |
|
rs157077
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, the haplotype CT between rs4925 and rs11191979 appeared to confer a high risk of arsenic-included skin lesions (OR = 1.377, 95% CI = 1.03-1.84), as did the haplotype GCG among rs156697, rs157077 and rs2297235 (OR = 2.197, 95% CI = 1.08-4.44).
|
29323258 |
2018 |
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rs1801133
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|
|
0.010 |
GeneticVariation |
BEFREE |
The T allele of MTHFR 677 C ➔ T (rs1801133) was associated with HHcys, higher %MMA, and lower %DMA, but not with skin lesions.
|
29421402 |
2018 |
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rs1801394
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interactions between SNPs and water As on skin lesion risk were suggestive for three variants: the G allele of MTRR rs1801394 and T allele of FOLR1 rs1540087 were associated with lower odds of skin lesions with lower As (≤50 μg/L), and the T allele of TYMS rs1001761 was associated with higher odds of skin lesions with higher As.
|
29421402 |
2018 |
|
rs2297235
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, the haplotype CT between rs4925 and rs11191979 appeared to confer a high risk of arsenic-included skin lesions (OR = 1.377, 95% CI = 1.03-1.84), as did the haplotype GCG among rs156697, rs157077 and rs2297235 (OR = 2.197, 95% CI = 1.08-4.44).
|
29323258 |
2018 |
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rs3790064
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|
|
0.010 |
GeneticVariation |
BEFREE |
The results indicated that subjects who carried at least one C allele for GSTO1 rs11191979 polymorphism, at least one A allele for GSTO1 rs2164624, at least one A allele for GSTO1 rs4925, the AG genotype for GSTO2 rs156697, the AG genotype or at least one G allele for GSTO2 rs2297235 or the GG genotype or at least one G allele for PNP rs3790064 had an increased risk of arsenic-related skin lesions.
|
29323258 |
2018 |
|
rs4925
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|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, the haplotype CT between rs4925 and rs11191979 appeared to confer a high risk of arsenic-included skin lesions (OR = 1.377, 95% CI = 1.03-1.84), as did the haplotype GCG among rs156697, rs157077 and rs2297235 (OR = 2.197, 95% CI = 1.08-4.44).
|
29323258 |
2018 |
|
rs9266150
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results implied that rs9266150 might not only play an important role in the development of psoriasis, but also be positively associated with the geographic location, gender and present skin lesion in the Chinese population.
|
29630754 |
2018 |
|
rs121913521
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To the best of our knowledge this first report of a patient with ISM, whose bone marrow MCs carry the <i>KIT</i> V560G activating mutation, manifesting as recurrent spontaneous episodes of flushing and vascular collapse in the absence of skin lesions at the time of diagnosis, in whom disodium cromoglycate had led to long term clinical remission.
|
28439288 |
2017 |
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rs121913529
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|
|
0.010 |
GeneticVariation |
BEFREE |
Whole-exome sequencing revealed a low-level heterozygous mutation of the KRAS gene (c.35C > T; p.G12D, 19%) in the skin lesion sample.
|
29381910 |
2017 |