chrX:47446519:T>G Detail (hg19) (SYN1)

Information

Genome

Assembly Position
hg19 chrX:47,446,519-47,446,519
hg38 chrX:47,587,120-47,587,120 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006950.3:c.775-9619A>C
NM_133499.2:c.775-9619A>C
Ensemble ENST00000295987.13:c.775-9619A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.449
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 313440 OMIM
HGNC 11494 HGNC
Ensembl ENSG00000008056 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv66569432 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
0.006 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 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 Carcinoma of bladder To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 ... BeFree 23819551 Detail
Annotation

Annotations

DescrptionSourceLinks
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
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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2070584 dbSNP
Genome
hg19
Position
chrX:47,446,519-47,446,519
Variant Type
snv
Reference Allele
T
Alternative Allele
G
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))
rs2070584
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4494
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5772
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12843
Genome browser