chr15:78818751:C>T Detail (hg38) (MORF4L1)

Information

Genome

Assembly Position
hg19 chr15:79,111,093-79,111,093 View the variant detail on this assembly version.
hg38 chr15:78,818,751-78,818,751

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000379535.8:c.-10+7710C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.336
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 607303 OMIM
HGNC 16989 HGNC
Ensembl ENSG00000185787 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53661223 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
0.246 coronary artery disease [Replication in an independent sample of 21,408 cases and 19,185 controls identi... GAD 21378988 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
[Replication in an independent sample of 21,408 cases and 19,185 controls identified five loci newly... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4380028 dbSNP
Genome
hg38
Position
chr15:78,818,751-78,818,751
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs4380028
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.336
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5632
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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