chr1:196916214:C>G Detail (hg38) (CFHR4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:196,885,344-196,885,344 View the variant detail on this assembly version. |
hg38 | chr1:196,916,214-196,916,214 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_006684.4:c.799+1076C>G | |
NM_001201550.2:c.1537+1076C>G | ||
NM_001201551.1:c.1537+1076C>G |
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 |
---|---|---|---|---|---|
0.007 | age related macular degeneration | NA | GAD | Detail |
Annotation
Genome browser