chr22:42276742:G>C Detail (hg19) (SREBF2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr22:42,276,742-42,276,742 |
hg38 | chr22:41,880,738-41,880,738 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004599.3:c.1784G>C | NP_004590.2:p.Gly595Ala |
Ensemble | ENST00000361204.9:c.1784G>C | ENST00000361204.9:p.Gly595Ala |
ENST00000710853.1:c.1694G>C | ENST00000710853.1:p.Gly565Ala |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.339 |
ToMMo:0.344 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.179 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2021-05-04 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.003 | myocardial infarction | SREBF-2 1784G > C single nucleotide polymorphism (SNP, rs2228314) and SCAP 23... | BeFree | 20111910 | Detail |
0.002 | Non-alcoholic Fatty Liver Disease | Relationship of SREBP-2 rs2228314 G>C polymorphism with nonalcoholic fatty li... | BeFree | 24992162 | Detail |
0.002 | Non-alcoholic Fatty Liver Disease | SREBP-2 1784 G/C genotype is associated with non-alcoholic fatty liver disease i... | BeFree | 22182810 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_004599.4(SREBF2):c.1784G>C (p.Gly595Ala) AND not provided | ClinVar | Detail |
SREBF-2 1784G > C single nucleotide polymorphism (SNP, rs2228314) and SCAP 2386A > G variant (... | DisGeNET | Detail |
Relationship of SREBP-2 rs2228314 G>C polymorphism with nonalcoholic fatty liver disease in a Han... | DisGeNET | Detail |
SREBP-2 1784 G/C genotype is associated with non-alcoholic fatty liver disease in north Indians. | 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
- rs2228314 dbSNP
- Genome
- hg19
- Position
- chr22:42,276,742-42,276,742
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1186
- Mean of sample read depth (HGVD)
- 63.49
- Standard deviation of sample read depth (HGVD)
- 31.80
- Number of reference allele (HGVD)
- 1567
- Number of alternative allele (HGVD)
- 805
- Allele Frequency (HGVD)
- 0.3393760539629005
- Gene Symbol (HGVD)
- SREBF2
- 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))
- rs2228314
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3436
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5759
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8628
- East Asian Allele Counts (ExAC)
- 1548
- East Asian Heterozygous Counts (ExAC)
- 1246
- East Asian Homozygous Counts (ExAC)
- 151
- East Asian Allele Frequency (ExAC)
- 0.17941585535465926
- Chromosome Counts in All Race (ExAC)
- 121106
- Allele Counts in All Race (ExAC)
- 40434
- Heterozygous Counts in All Race (ExAC)
- 23662
- Homozygous Counts in All Race (ExAC)
- 8386
- Allele Frequency in All Race (ExAC)
- 0.333872805641339
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