chr1:231540974:G>A Detail (hg19) (EGLN1)

Information

Genome

Assembly Position
hg19 chr1:231,540,974-231,540,974
hg38 chr1:231,405,228-231,405,228 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_022051.2:c.891+15770C>T
Ensemble ENST00000366641.4:c.891+15770C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.522
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 606425 OMIM
HGNC 1232 HGNC
Ensembl ENSG00000135766 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv5154553 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 Hyperlipidemia, Familial Combined Variants more frequently identified in isolated hypertriglyceridemias were rs741... BeFree 25176936 Detail
<0.001 Hyperlipidemia, Familial Combined Variants more frequently identified in isolated hypertriglyceridemias were rs741... BeFree 25176936 Detail
0.015 Hyperlipidemia, Familial Combined Variants more frequently identified in isolated hypertriglyceridemias were rs741... BeFree 25176936 Detail
<0.001 Hyperlipidemia, Familial Combined Variants more frequently identified in isolated hypertriglyceridemias were rs741... BeFree 25176936 Detail
Annotation

Annotations

DescrptionSourceLinks
Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800... DisGeNET Detail
Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800... DisGeNET Detail
Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800... DisGeNET Detail
Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2808607 dbSNP
Genome
hg19
Position
chr1:231,540,974-231,540,974
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs2808607
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5225
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8743
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16734
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