chr13:110960712:A>G Detail (hg19) (COL4A1, COL4A2)

Information

Genome

Assembly Position
hg19 chr13:110,960,712-110,960,712
hg38 chr13:110,308,365-110,308,365 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001846.2:c.99+242A>G
Ensemble ENST00000480609.2:c.99+242A>G
ENST00000360467.7:c.99+242A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.380
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 120090 OMIM
HGNC 2203 HGNC
Ensembl ENSG00000134871 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv49870843 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-29 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 arteriosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
<0.001 arteriosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
0.001 arteriosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
0.003 atherosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
<0.001 atherosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
<0.001 atherosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
<0.001 arteriosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
<0.001 atherosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
<0.001 Chronic Kidney Diseases The χ(2) test revealed that rs4845625 (T→C) of IL6R, rs4773144 (A→G) of COL4A1, ... BeFree 25524550 Detail
<0.001 Chronic Kidney Diseases Multivariable logistic regression analysis with adjustment for age, sex, body ma... BeFree 25524550 Detail
<0.001 Chronic Kidney Diseases Multivariable logistic regression analysis with adjustment for age, sex, body ma... BeFree 25524550 Detail
0.003 coronary artery disease [Large-scale association analysis identifies 13 new susceptibility loci for coro... GAD 21378990 Detail
<0.001 Dyslipidemias Multivariable logistic regression analysis with adjustment for age, sex, body ma... BeFree 25524550 Detail
<0.001 Dyslipidemias Multivariable logistic regression analysis with adjustment for age, sex, body ma... BeFree 25524550 Detail
0.003 coronary artery disease [Large-scale association analysis identifies 13 new susceptibility loci for coro... GAD 21378990 Detail
<0.001 Dyslipidemias Multivariable logistic regression analysis with adjustment for age, sex, body ma... BeFree 25524550 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001846.4(COL4A2):c.99+242A>G AND not provided ClinVar Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The χ(2) test revealed that rs4845625 (T→C) of IL6R, rs4773144 (A→G) of COL4A1, rs9319428 (G→A) of F... DisGeNET Detail
Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the pr... DisGeNET Detail
Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the pr... DisGeNET Detail
[Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.... DisGeNET Detail
Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the pr... DisGeNET Detail
Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the pr... DisGeNET Detail
[Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.... DisGeNET Detail
Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the pr... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4773144 dbSNP
Genome
hg19
Position
chr13:110,960,712-110,960,712
Variant Type
snv
Reference Allele
A
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))
rs4773144
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3796
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6362
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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