chr6:11774350:A>G Detail (hg38) (ADTRP)

Information

Genome

Assembly Position
hg19 chr6:11,774,583-11,774,583 View the variant detail on this assembly version.
hg38 chr6:11,774,350-11,774,350

HGVS

Type Transcript Protein
RefSeq NM_001143948.1:c.153+4257T>C
NM_032744.3:c.153+4257T>C
Ensemble ENST00000229583.9:c.153+4257T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.925
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 614348 OMIM
HGNC 21214 HGNC
Ensembl ENSG00000111863 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24287732 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 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
0.121 coronary artery disease We report the first GWAS for CAD in the Chinese Han population and identify a SN... BeFree 21378986 Detail
0.121 coronary artery disease The SNP rs6903956 within the ADTRP gene on chromosome 6p24.1 is significantly as... BeFree 23337689 Detail
Annotation

Annotations

DescrptionSourceLinks
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
We report the first GWAS for CAD in the Chinese Han population and identify a SNP, rs6903956, in C6o... DisGeNET Detail
The SNP rs6903956 within the ADTRP gene on chromosome 6p24.1 is significantly associated with CAD in... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6903956 dbSNP
Genome
hg38
Position
chr6:11,774,350-11,774,350
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))
rs6903956
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.925
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15503
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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