chr1:196713817:G>T Detail (hg38) (CFH)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:196,682,947-196,682,947 View the variant detail on this assembly version. |
hg38 | chr1:196,713,817-196,713,817 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000186.3:c.1419G>T | NP_000177.2:p.Ala473= |
Ensemble | ENST00000367429.9:c.1419G>T | ENST00000367429.9:p.Ala473= |
ENST00000695969.1:c.1419G>T | ENST00000695969.1:p.Ala473= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:<0.001 |
ToMMo:[No Data.] | |
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 |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.319 | age related macular degeneration | Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... | BeFree | 23582991 | Detail |
0.480 | age related macular degeneration | Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... | BeFree | 23582991 | Detail |
0.021 | age related macular degeneration | Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... | BeFree | 23582991 | Detail |
0.005 | age related macular degeneration | Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... | BeFree | 23582991 | Detail |
0.002 | Hypertensive disease | Notably, the associations of rs2274700 (A473A) with DBP (P = 2.1×10(-3)), SBP (P... | BeFree | 22848687 | Detail |
0.002 | Hypertensive disease | Notably, the associations of rs2274700 (A473A) with DBP (P = 2.1×10(-3)), SBP (P... | BeFree | 22848687 | Detail |
0.021 | age related macular degeneration | We genotyped three SNPs in the CFH gene cluster that are closely linked to age-r... | BeFree | 22848687 | Detail |
0.480 | age related macular degeneration | We genotyped three SNPs in the CFH gene cluster that are closely linked to age-r... | BeFree | 22848687 | Detail |
0.440 | MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... | DisGeNET | Detail |
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... | DisGeNET | Detail |
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... | DisGeNET | Detail |
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... | DisGeNET | Detail |
Notably, the associations of rs2274700 (A473A) with DBP (P = 2.1×10(-3)), SBP (P = 8×10(-5)) and hyp... | DisGeNET | Detail |
Notably, the associations of rs2274700 (A473A) with DBP (P = 2.1×10(-3)), SBP (P = 8×10(-5)) and hyp... | DisGeNET | Detail |
We genotyped three SNPs in the CFH gene cluster that are closely linked to age-related macular degen... | DisGeNET | Detail |
We genotyped three SNPs in the CFH gene cluster that are closely linked to age-related macular degen... | DisGeNET | Detail |
NA | 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
- -
- Genome
- hg38
- Position
- chr1:196,713,817-196,713,817
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1059
- Mean of sample read depth (HGVD)
- 59.77
- Standard deviation of sample read depth (HGVD)
- 24.65
- Number of reference allele (HGVD)
- 1155
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 8.650519031141869E-4
- Gene Symbol (HGVD)
- CFH
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