chr6:12294258:A>G Detail (hg19) (EDN1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:12,294,258-12,294,258 |
hg38 | chr6:12,294,025-12,294,025 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001168319.1:c.318A>G | NP_001161791.1:p.Glu106= |
NM_001955.4:c.318A>G | NP_001946.3:p.Glu106= | |
Ensemble | ENST00000379375.6:c.318A>G | ENST00000379375.6:p.Glu106= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.981 |
ToMMo:0.982 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.976 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.040 | Acute coronary syndrome | Six polymorphisms (rs1799983, rs2070744, rs1800783, rs3087459, rs1800541, and rs... | BeFree | 24035903 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001955.5(EDN1):c.318A>G (p.Glu106=) AND Auriculocondylar syndrome 3 | ClinVar | Detail |
NM_001955.5(EDN1):c.318A>G (p.Glu106=) AND not provided | ClinVar | Detail |
Six polymorphisms (rs1799983, rs2070744, rs1800783, rs3087459, rs1800541, and rs5369) of eNOS and ED... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs5369 dbSNP
- Genome
- hg19
- Position
- chr6:12,294,258-12,294,258
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1208
- Mean of sample read depth (HGVD)
- 72.63
- Standard deviation of sample read depth (HGVD)
- 32.51
- Number of reference allele (HGVD)
- 46
- Number of alternative allele (HGVD)
- 2368
- Allele Frequency (HGVD)
- 0.9809444904722452
- Gene Symbol (HGVD)
- EDN1
- 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))
- rs5369
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9823
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16463
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 8447
- East Asian Heterozygous Counts (ExAC)
- 205
- East Asian Homozygous Counts (ExAC)
- 4121
- East Asian Allele Frequency (ExAC)
- 0.9760804252368847
- Chromosome Counts in All Race (ExAC)
- 121396
- Allele Counts in All Race (ExAC)
- 109589
- Heterozygous Counts in All Race (ExAC)
- 10469
- Homozygous Counts in All Race (ExAC)
- 49560
- Allele Frequency in All Race (ExAC)
- 0.9027397937329071
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