chr6:117301021:G>C Detail (hg38) (ROS1)

Information

Genome

Assembly Position
hg19 chr6:117,622,184-117,622,184 View the variant detail on this assembly version.
hg38 chr6:117,301,021-117,301,021

HGVS

Type Transcript Protein
RefSeq NM_002944.2:c.6686C>G NP_002935.2:p.Ser2229Cys
Ensemble ENST00000368507.8:c.6668C>G ENST00000368507.8:p.Ser2223Cys
ENST00000368508.7:c.6686C>G ENST00000368508.7:p.Ser2229Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.145
ToMMo:0.146
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.182

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 165020 OMIM
HGNC 10261 HGNC
Ensembl ENSG00000047936 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv26750122 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 myocardial infarction We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... BeFree 19709766 Detail
0.008 myocardial infarction We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... BeFree 19709766 Detail
0.005 myocardial infarction We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... BeFree 19709766 Detail
0.010 myocardial infarction We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... BeFree 19709766 Detail
0.010 myocardial infarction Rs619203 (Cys2229Ser) and rs529038 (Asp2213Asn) polymorphisms in the ROS1 gene h... BeFree 19863298 Detail
0.130 Hypercholesterolemia Evaluation of genotype distributions by the Chi-square test and subsequent multi... BeFree 18097620 Detail
0.008 Hypercholesterolemia Evaluation of genotype distributions by the Chi-square test and subsequent multi... BeFree 18097620 Detail
0.006 Hypertensive disease Evaluation of genotype distributions by the Chi-square test and subsequent multi... BeFree 18097620 Detail
0.018 Hypertensive disease Evaluation of genotype distributions by the Chi-square test and subsequent multi... BeFree 18097620 Detail
0.428 Hypercholesterolemia Evaluation of genotype distributions by the Chi-square test and subsequent multi... BeFree 18097620 Detail
0.005 Hypertensive disease Evaluation of genotype distributions by the Chi-square test and subsequent multi... BeFree 18097620 Detail
0.008 Hypertensive disease Evaluation of genotype distributions by the Chi-square test and subsequent multi... BeFree 18097620 Detail
0.010 myocardial infarction [Identification of four gene variants associated with myocardial infarction.] GAD 16175505 Detail
0.003 Cerebrovascular accident An initial chi(2) test (false discovery rate <0.05) and subsequent multivaria... BeFree 18566305 Detail
0.003 Cerebrovascular accident An initial chi(2) test (false discovery rate <0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 Subarachnoid Hemorrhage An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
0.006 cerebral infarction An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
0.011 Cerebrovascular accident An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 cerebral infarction An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 Subarachnoid Hemorrhage An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 cerebral infarction An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 cerebral infarction An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 Cerebrovascular accident An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
Annotation

Annotations

DescrptionSourceLinks
We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... DisGeNET Detail
We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... DisGeNET Detail
We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... DisGeNET Detail
We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... DisGeNET Detail
Rs619203 (Cys2229Ser) and rs529038 (Asp2213Asn) polymorphisms in the ROS1 gene have been studied in ... DisGeNET Detail
Evaluation of genotype distributions by the Chi-square test and subsequent multivariable logistic re... DisGeNET Detail
Evaluation of genotype distributions by the Chi-square test and subsequent multivariable logistic re... DisGeNET Detail
Evaluation of genotype distributions by the Chi-square test and subsequent multivariable logistic re... DisGeNET Detail
Evaluation of genotype distributions by the Chi-square test and subsequent multivariable logistic re... DisGeNET Detail
Evaluation of genotype distributions by the Chi-square test and subsequent multivariable logistic re... DisGeNET Detail
Evaluation of genotype distributions by the Chi-square test and subsequent multivariable logistic re... DisGeNET Detail
Evaluation of genotype distributions by the Chi-square test and subsequent multivariable logistic re... DisGeNET Detail
[Identification of four gene variants associated with myocardial infarction.] DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr6:117,301,021-117,301,021
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1141
Mean of sample read depth (HGVD)
44.58
Standard deviation of sample read depth (HGVD)
26.16
Number of reference allele (HGVD)
1950
Number of alternative allele (HGVD)
332
Allele Frequency (HGVD)
0.14548641542506574
Gene Symbol (HGVD)
ROS1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs619203
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1462
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2451
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8630
East Asian Allele Counts (ExAC)
1567
East Asian Heterozygous Counts (ExAC)
1283
East Asian Homozygous Counts (ExAC)
142
East Asian Allele Frequency (ExAC)
0.18157589803012747
Chromosome Counts in All Race (ExAC)
121170
Allele Counts in All Race (ExAC)
25198
Heterozygous Counts in All Race (ExAC)
19530
Homozygous Counts in All Race (ExAC)
2834
Allele Frequency in All Race (ExAC)
0.2079557646282083
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