chr9:18573360:G>A Detail (hg19) (ADAMTSL1)

Information

Genome

Assembly Position
hg19 chr9:18,573,360-18,573,360
hg38 chr9:18,573,362-18,573,362 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_052866.4:c.238-668G>A
NM_001040272.5:c.238-668G>A
Ensemble ENST00000276935.6:c.238-668G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.167
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.141

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 609198 OMIM
HGNC 14632 HGNC
Ensembl ENSG00000178031 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv35685127 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 Nasopharyngeal carcinoma In this study, we analyzed associations between eight SNPs in miRNA mature seque... BeFree 25861865 Detail
<0.001 Nasopharyngeal carcinoma In this study, we analyzed associations between eight SNPs in miRNA mature seque... BeFree 25861865 Detail
<0.001 Nasopharyngeal carcinoma In this study, we analyzed associations between eight SNPs in miRNA mature seque... BeFree 25861865 Detail
<0.001 Nasopharyngeal carcinoma In this study, we analyzed associations between eight SNPs in miRNA mature seque... BeFree 25861865 Detail
<0.001 Nasopharyngeal carcinoma In this study, we analyzed associations between eight SNPs in miRNA mature seque... BeFree 25861865 Detail
<0.001 Nasopharyngeal carcinoma In this study, we analyzed associations between eight SNPs in miRNA mature seque... BeFree 25861865 Detail
<0.001 Nasopharyngeal carcinoma In this study, we analyzed associations between eight SNPs in miRNA mature seque... BeFree 25861865 Detail
Annotation

Annotations

DescrptionSourceLinks
In this study, we analyzed associations between eight SNPs in miRNA mature sequences (i.e., rs374644... DisGeNET Detail
In this study, we analyzed associations between eight SNPs in miRNA mature sequences (i.e., rs374644... DisGeNET Detail
In this study, we analyzed associations between eight SNPs in miRNA mature sequences (i.e., rs374644... DisGeNET Detail
In this study, we analyzed associations between eight SNPs in miRNA mature sequences (i.e., rs374644... DisGeNET Detail
In this study, we analyzed associations between eight SNPs in miRNA mature sequences (i.e., rs374644... DisGeNET Detail
In this study, we analyzed associations between eight SNPs in miRNA mature sequences (i.e., rs374644... DisGeNET Detail
In this study, we analyzed associations between eight SNPs in miRNA mature sequences (i.e., rs374644... 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
-
dbSNP
rs13299349 dbSNP
Genome
hg19
Position
chr9:18,573,360-18,573,360
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs13299349
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1668
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2795
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
64
East Asian Allele Counts (ExAC)
9
East Asian Heterozygous Counts (ExAC)
5
East Asian Homozygous Counts (ExAC)
2
East Asian Allele Frequency (ExAC)
0.140625
Chromosome Counts in All Race (ExAC)
1532
Allele Counts in All Race (ExAC)
435
Heterozygous Counts in All Race (ExAC)
291
Homozygous Counts in All Race (ExAC)
72
Allele Frequency in All Race (ExAC)
0.2839425587467363
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