chr16:72995261:T>C Detail (hg38) (ZFHX3)

Information

Genome

Assembly Position
hg19 chr16:73,029,160-73,029,160 View the variant detail on this assembly version.
hg38 chr16:72,995,261-72,995,261

HGVS

Type Transcript Protein
RefSeq NM_006885.3:c.-49-35067A>G
NM_001164766.1:c.-23-44296A>G
Ensemble ENST00000268489.10:c.-49-35067A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.439
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 104155 OMIM
HGNC 777 HGNC
Ensembl ENSG00000140836 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv56057148 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 Ischemic stroke Nonparametric linkage analysis revealed that the rs1800796 polymorphism in the i... BeFree 25325233 Detail
<0.001 Ischemic Cerebrovascular Accident Nonparametric linkage analysis revealed that the rs1800796 polymorphism in the i... BeFree 25325233 Detail
0.245 atrial fibrillation A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and isc... GWASCAT 19597491 Detail
0.245 atrial fibrillation [A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and is... GAD 19597491 Detail
Annotation

Annotations

DescrptionSourceLinks
Nonparametric linkage analysis revealed that the rs1800796 polymorphism in the interleukin-6 (IL-6) ... DisGeNET Detail
Nonparametric linkage analysis revealed that the rs1800796 polymorphism in the interleukin-6 (IL-6) ... DisGeNET Detail
A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. DisGeNET Detail
[A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke.] DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7193343 dbSNP
Genome
hg38
Position
chr16:72,995,261-72,995,261
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))
rs7193343
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4389
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7356
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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