chr7:74083398:A>G Detail (hg38) (LIMK1)

Information

Genome

Assembly Position
hg19 chr7:73,497,728-73,497,728 View the variant detail on this assembly version.
hg38 chr7:74,083,398-74,083,398

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000418310.5:c.145+219A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.847
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 601329 OMIM
HGNC 6613 HGNC
Ensembl ENSG00000106683 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv29715081 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
0.003 Cerebrovascular accident An initial chi(2) test (false discovery rate <0.05) and subsequent multivaria... BeFree 18566305 Detail
0.003 Cerebrovascular accident An initial chi(2) test (false discovery rate <0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 Subarachnoid Hemorrhage An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
0.006 cerebral infarction An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
0.011 Cerebrovascular accident An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 cerebral infarction An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 Subarachnoid Hemorrhage An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 cerebral infarction An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 cerebral infarction An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 Cerebrovascular accident An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
Annotation

Annotations

DescrptionSourceLinks
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs710968 dbSNP
Genome
hg38
Position
chr7:74,083,398-74,083,398
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))
rs710968
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.847
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14193
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
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