chr6:117301070:C>T Detail (hg38) (ROS1)

Information

Genome

Assembly Position
hg19 chr6:117,622,233-117,622,233 View the variant detail on this assembly version.
hg38 chr6:117,301,070-117,301,070

HGVS

Type Transcript Protein
RefSeq NM_002944.2:c.6637G>A NP_002935.2:p.Asp2213Asn
Ensemble ENST00000368507.8:c.6619G>A ENST00000368507.8:p.Asp2207Asn
ENST00000368508.7:c.6637G>A ENST00000368508.7:p.Asp2213Asn
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.151
ToMMo:0.146
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.183

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 tgv26750136 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
<0.001 cerebral infarction The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.005 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.003 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.011 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.115 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.005 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.002 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.003 cerebral infarction The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.002 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.143 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.003 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.122 cerebral infarction The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
<0.001 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.006 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.143 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.010 myocardial infarction Rs619203 (Cys2229Ser) and rs529038 (Asp2213Asn) polymorphisms in the ROS1 gene h... BeFree 19863298 Detail
Annotation

Annotations

DescrptionSourceLinks
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
Rs619203 (Cys2229Ser) and rs529038 (Asp2213Asn) polymorphisms in the ROS1 gene have been studied in ... 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
chr6:117,301,070-117,301,070
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1164
Mean of sample read depth (HGVD)
62.16
Standard deviation of sample read depth (HGVD)
33.84
Number of reference allele (HGVD)
1977
Number of alternative allele (HGVD)
351
Allele Frequency (HGVD)
0.15077319587628865
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))
rs529038
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)
1583
East Asian Heterozygous Counts (ExAC)
1277
East Asian Homozygous Counts (ExAC)
153
East Asian Allele Frequency (ExAC)
0.18342989571263035
Chromosome Counts in All Race (ExAC)
121212
Allele Counts in All Race (ExAC)
25260
Heterozygous Counts in All Race (ExAC)
19426
Homozygous Counts in All Race (ExAC)
2917
Allele Frequency in All Race (ExAC)
0.2083952083952084
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