chr1:196698945:G>A Detail (hg19) (CFH)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:196,698,945-196,698,945 |
hg38 | chr1:196,729,815-196,729,815 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000186.3:c.2413+1293G>A | |
Ensemble | ENST00000695984.1:c.421+1293G>A | |
ENST00000695981.1:c.2413+1293G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | 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 |
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 |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs12144939 dbSNP
- Genome
- hg19
- Position
- chr1:196,698,945-196,698,945
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser