chr22:32800707:T>C Detail (hg38) (SYN3)

Information

Genome

Assembly Position
hg19 chr22:33,196,693-33,196,693 View the variant detail on this assembly version.
hg38 chr22:32,800,707-32,800,707

HGVS

Type Transcript Protein
RefSeq NM_001135774.1:c.711+64208A>G
NM_003490.3:c.711+64208A>G
NM_133633.2:c.711+64208A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.101
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 602705 OMIM
HGNC 11496 HGNC
Ensembl ENSG00000185666 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65770480 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 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
0.129 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
<0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
0.006 Malignant neoplasm of urinary bladder To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 ... BeFree 23819551 Detail
<0.001 Carcinoma of bladder To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 ... BeFree 23819551 Detail
<0.001 Malignant neoplasm of urinary bladder To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 ... BeFree 23819551 Detail
<0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
<0.001 Carcinoma of bladder To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 ... BeFree 23819551 Detail
0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
<0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
<0.001 Malignant neoplasm of urinary bladder To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 ... BeFree 23819551 Detail
<0.001 Carcinoma of bladder To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 ... BeFree 23819551 Detail
0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
Annotation

Annotations

DescrptionSourceLinks
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (r... DisGeNET Detail
To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (r... DisGeNET Detail
To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (r... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (r... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (r... DisGeNET Detail
To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (r... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9619311 dbSNP
Genome
hg38
Position
chr22:32,800,707-32,800,707
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs9619311
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1013
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1698
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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