chr10:89243170:C>T Detail (hg38) (LIPA)

Information

Genome

Assembly Position
hg19 chr10:91,002,927-91,002,927 View the variant detail on this assembly version.
hg38 chr10:89,243,170-89,243,170

HGVS

Type Transcript Protein
RefSeq NM_000235.3:c.229+2506G>A
NM_001127605.2:c.229+2506G>A
NM_001288979.1:c.-120+8567G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.220
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 613497 OMIM
HGNC 6617 HGNC
Ensembl ENSG00000107798 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40130744 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
0.126 coronary artery disease [Replication in an independent sample of 21,408 cases and 19,185 controls identi... GAD 21378988 Detail
0.121 Coronary heart disease A genome-wide association study in Europeans and South Asians identifies five ne... GWASCAT 21378988 Detail
0.121 Coronary heart disease A genome-wide association study identifies LIPA as a susceptibility gene for cor... GWASCAT 21606135 Detail
0.005 coronary artery disease Three prevalent single nucleotide polymorphisms (SNPs; rs1412444(LIPA), rs662799... BeFree 26731984 Detail
0.126 coronary artery disease [A genome-wide association study identifies LIPA as a susceptibility gene for co... GAD 21606135 Detail
0.139 coronary artery disease Three prevalent single nucleotide polymorphisms (SNPs; rs1412444(LIPA), rs662799... BeFree 26731984 Detail
Annotation

Annotations

DescrptionSourceLinks
[Replication in an independent sample of 21,408 cases and 19,185 controls identified five loci newly... DisGeNET Detail
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary ... DisGeNET Detail
A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease... DisGeNET Detail
Three prevalent single nucleotide polymorphisms (SNPs; rs1412444(LIPA), rs662799(APOA5) and rs964184... DisGeNET Detail
[A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery diseas... DisGeNET Detail
Three prevalent single nucleotide polymorphisms (SNPs; rs1412444(LIPA), rs662799(APOA5) and rs964184... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1412444 dbSNP
Genome
hg38
Position
chr10:89,243,170-89,243,170
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))
rs1412444
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.22
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3687
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser