chr6:31903804:G>C Detail (hg19) (C2, C2-AS1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:31,903,804-31,903,804 |
hg38 | chr6:31,936,027-31,936,027 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000063.5:c.954G>C | NP_000054.2:p.Glu318Asp |
NM_001282458.1:c.954G>C | NP_001269387.1:p.Glu318Asp | |
NM_001145903.2:c.558G>C | NP_001139375.1:p.Glu186Asp |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.021 |
ToMMo:0.030 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.017 |
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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2017-04-27 | criteria provided, single submitter | age related macular degeneration 14 |
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Detail |
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2019-05-28 | criteria provided, multiple submitters, no conflicts | complement component 2 deficiency |
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Detail |
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2016-03-28 | criteria provided, single submitter | not specified |
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Detail |
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2024-01-29 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2022-04-09 | criteria provided, single submitter | complement component 2 deficiency,age related macular degeneration 14 |
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Detail |
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2022-04-09 | criteria provided, single submitter | complement component 2 deficiency,age related macular degeneration 14 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.292 | age related macular degeneration | No association with AMD was found for SNP rs9332739 (E318D) in the C2 gene or fo... | BeFree | 18806293 | Detail |
0.319 | age related macular degeneration | We performed an association analysis between PCV and polymorphisms across the C2... | BeFree | 19556007 | Detail |
0.292 | age related macular degeneration | Heritability and genome-wide association study to assess genetic differences bet... | GWASCAT | 22705344 | Detail |
0.292 | age related macular degeneration | Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-rela... | GWASCAT | 21665990 | Detail |
0.120 | age related macular degeneration | Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-rela... | GWASCAT | 21665990 | Detail |
0.120 | age related macular degeneration | Heritability and genome-wide association study to assess genetic differences bet... | GWASCAT | 22705344 | Detail |
0.292 | age related macular degeneration | [The significant association is retained following multivariate analysis with ad... | GAD | 20157618 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000063.6(C2):c.954G>C (p.Glu318Asp) AND Age related macular degeneration 14 | ClinVar | Detail |
NM_000063.6(C2):c.954G>C (p.Glu318Asp) AND Complement component 2 deficiency | ClinVar | Detail |
NM_000063.6(C2):c.954G>C (p.Glu318Asp) AND not specified | ClinVar | Detail |
NM_000063.6(C2):c.954G>C (p.Glu318Asp) AND not provided | ClinVar | Detail |
NM_000063.6(C2):c.954G>C (p.Glu318Asp) AND multiple conditions | ClinVar | Detail |
NM_000063.6(C2):c.954G>C (p.Glu318Asp) AND multiple conditions | ClinVar | Detail |
No association with AMD was found for SNP rs9332739 (E318D) in the C2 gene or for rs4151667 (L9H), r... | DisGeNET | Detail |
We performed an association analysis between PCV and polymorphisms across the C2-CFB-RDBP-SKIV2L reg... | DisGeNET | Detail |
Heritability and genome-wide association study to assess genetic differences between advanced age-re... | DisGeNET | Detail |
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degenera... | DisGeNET | Detail |
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degenera... | DisGeNET | Detail |
Heritability and genome-wide association study to assess genetic differences between advanced age-re... | DisGeNET | Detail |
[The significant association is retained following multivariate analysis with adjustment for age, sm... | 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
- rs9332739 dbSNP
- Genome
- hg19
- Position
- chr6:31,903,804-31,903,804
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1172
- Mean of sample read depth (HGVD)
- 115.90
- Standard deviation of sample read depth (HGVD)
- 56.54
- Number of reference allele (HGVD)
- 2295
- Number of alternative allele (HGVD)
- 49
- Allele Frequency (HGVD)
- 0.020904436860068258
- Gene Symbol (HGVD)
- C2
- 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))
- rs9332739
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0298
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 500
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- Homozygous Counts in All Race (ExAC)
- 102
- East Asian Chromosome Counts (ExAC)
- 8506
- East Asian Allele Counts (ExAC)
- 147
- East Asian Heterozygous Counts (ExAC)
- 141
- East Asian Homozygous Counts (ExAC)
- 3
- East Asian Allele Frequency (ExAC)
- 0.017281918645661885
- Chromosome Counts in All Race (ExAC)
- 116040
- Allele Counts in All Race (ExAC)
- 4521
- Heterozygous Counts in All Race (ExAC)
- 4317
- Allele Frequency in All Race (ExAC)
- 0.038960703205791106
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