chr1:196696933:G>A Detail (hg19) (CFH)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:196,696,933-196,696,933 |
hg38 | chr1:196,727,803-196,727,803 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000186.3:c.2237-543G>A | |
Ensemble | ENST00000695984.1:c.245-543G>A | |
ENST00000695981.1:c.2237-543G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.442 | |
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 |
---|---|---|---|---|---|
<0.001 | diabetes mellitus | Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mas... | BeFree | 24675670 | Detail |
<0.001 | Diabetes | Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mas... | BeFree | 24675670 | Detail |
<0.001 | diabetes mellitus | Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mas... | BeFree | 24675670 | Detail |
<0.001 | Diabetes | Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mas... | BeFree | 24675670 | Detail |
0.011 | macular degeneration | The data suggest that the noncoding variant rs1410996 of the CFH gene moderately... | BeFree | 19850835 | Detail |
0.480 | age related macular degeneration | The data suggest that the noncoding variant rs1410996 of the CFH gene moderately... | BeFree | 19850835 | Detail |
0.480 | age related macular degeneration | CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms a... | BeFree | 23534868 | Detail |
0.007 | macular degeneration | CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms a... | BeFree | 23534868 | Detail |
0.005 | macular degeneration | CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms a... | BeFree | 23534868 | Detail |
0.011 | macular degeneration | CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms a... | BeFree | 23534868 | Detail |
0.267 | age related macular degeneration | CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms a... | BeFree | 23534868 | Detail |
0.404 | age related macular degeneration | CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms a... | BeFree | 23534868 | Detail |
0.267 | age related macular degeneration | Variants in CFH rs1410996, ARMS2/HTRA1 A69S, and C3 R102G were significantly ass... | BeFree | 21906714 | Detail |
0.404 | age related macular degeneration | Variants in CFH rs1410996, ARMS2/HTRA1 A69S, and C3 R102G were significantly ass... | BeFree | 21906714 | Detail |
0.480 | age related macular degeneration | [implicate different biologic pathways than previously reported and provide new ... | GAD | 20385826 | Detail |
0.480 | age related macular degeneration | Genome-wide association study of advanced age-related macular degeneration ident... | GWASCAT | 20385826 | Detail |
0.440 | MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) | NA | CLINVAR | Detail | |
0.480 | age related macular degeneration | There was a possible association between LIPC and complement factor H (CFH) rs14... | BeFree | 21139980 | Detail |
0.135 | age related macular degeneration | There was a possible association between LIPC and complement factor H (CFH) rs14... | BeFree | 21139980 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mass index (p = 1.00 × ... | DisGeNET | Detail |
Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mass index (p = 1.00 × ... | DisGeNET | Detail |
Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mass index (p = 1.00 × ... | DisGeNET | Detail |
Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mass index (p = 1.00 × ... | DisGeNET | Detail |
The data suggest that the noncoding variant rs1410996 of the CFH gene moderately increased the risk ... | DisGeNET | Detail |
The data suggest that the noncoding variant rs1410996 of the CFH gene moderately increased the risk ... | DisGeNET | Detail |
CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with A... | DisGeNET | Detail |
CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with A... | DisGeNET | Detail |
CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with A... | DisGeNET | Detail |
CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with A... | DisGeNET | Detail |
CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with A... | DisGeNET | Detail |
CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with A... | DisGeNET | Detail |
Variants in CFH rs1410996, ARMS2/HTRA1 A69S, and C3 R102G were significantly associated with an incr... | DisGeNET | Detail |
Variants in CFH rs1410996, ARMS2/HTRA1 A69S, and C3 R102G were significantly associated with an incr... | DisGeNET | Detail |
[implicate different biologic pathways than previously reported and provide new avenues for preventi... | DisGeNET | Detail |
Genome-wide association study of advanced age-related macular degeneration identifies a role of the ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
There was a possible association between LIPC and complement factor H (CFH) rs1410996, and a possibl... | DisGeNET | Detail |
There was a possible association between LIPC and complement factor H (CFH) rs1410996, and a possibl... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs1410996 dbSNP
- Genome
- hg19
- Position
- chr1:196,696,933-196,696,933
- 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))
- rs1410996
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4416
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7401
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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