Basic Information

CFH

Full name: complement factor H

Gene type: protein coding

HGNC ID: HGNC:4883

Gene location: 1q31.3

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/3075

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:4883

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_000186.4

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P08603

AlphaFold: https://alphafold.ebi.ac.uk/entry/P08603

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/134370

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=3075

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa04610+3075

Variant resources

Gene Disease type Variant type NCBI dbSNP Alleles Variant location
CFH AMD rs1061170
CFH Missense Variant rs800292 G>A chr1:196673103 (GRCh38.p13)
CFH Intron Variant rs1410996 G>A / G>C chr1:196727803 (GRCh38.p13)
CFH early AMD Intron Variant rs1329424 T>A / T>C / T>G chr1:196677046 (GRCh38.p13)
CFH Exudative AMD Intron Variant rs3766404 T>A / T>C chr1:196682702 (GRCh38.p13)
CFH Advanced AMD Intron Variant rs1329421 A>C / A>G / A>T chr1:196687075 (GRCh38.p13)
CFH Advanced AMD Intron Variant rs1831282 A>C / A>G / A>T chr1:196704863 (GRCh38.p13)
CFH Advanced AMD Intron Variant rs12144939 G>A / G>T chr1:196729815 (GRCh38.p13)
CFH Advanced AMD Intron Variant rs2284664 C>A / C>T chr1:196733395 (GRCh38.p13)
CFH Advanced AMD Intron Variant rs1329428 C>G / C>T chr1:196733680 (GRCh38.p13)
CFH AMD Intron Variant rs10737680 A>C / A>T chr1:196710325 (GRCh38.p13)
CFH Drusen Area in Central Circle Intron Variant rs12038333 G>A / G>T chr1:196703324 (GRCh38.p13)
CFH AMD Intron Variant rs551397 C>T chr1:196672942 (GRCh38.p13)
CFH AMD Intron Variant rs10801555 A>G / A>T chr1:196691131 (GRCh38.p13)
CFH AMD Intron Variant rs12124794 A>G / A>T chr1:196692408 (GRCh38.p13)
CFH AMD Synonymous Variant rs2274700 G>A / G>C / G>T chr1:196713817 (GRCh38.p13)
CFH AMD Intron Variant rs380390 G>A / G>C / G>T chr1:196731921 (GRCh38.p13)
CFH Advanced AMD rs1410996/rs1329428
CFH AMD Intron Variant rs570618 T>C / T>G chr1:196687934 (GRCh38.p13)
CFH 2KB Upstream Variant rs3753394 C>T chr1:196651787 (GRCh38.p13)
CFH Mean Δ CMT ± SD rs1048663, rs3766405, rs412852, rs11582939, rs1066420,
CFH Advanced AMD Missense Variant rs121913059 C>T chr1:196747245 (GRCh38.p13)
CFH AMD-FARMS sample Missense Variant rs1065489 G>T chr1:196740644 (GRCh38.p13)
CFH Intron Variant rs6677604 G>A chr1:196717788 (GRCh38.p13)
CFH Missense Variant rs3753396 A>C / A>G chr1:196726612 (GRCh38.p13)
CFH Synonymous Variant rs1061147 A>C / A>G / A>T chr1:196685194 (GRCh38.p13)
CFH rs1831281
CFH Intron Variant rs419137 G>A / G>T chr1:196727745 (GRCh38.p13)
CFH GA rs800292/rs1061170
CFH Mean VA Change at 12 Months Intron Variant rs393955 C>A / C>G chr1:196723340 (GRCh38.p13)
CFH AMD Intron Variant rs16840422 C>A / C>T chr1:196683704 (GRCh38.p13)
CFH AMD Intron Variant rs35292876 C>T chr1:196737512 (GRCh38.p13)
CFH progression with Placebo Intron Variant rs3766405 C>A / C>T chr1:196726031 (GRCh38.p13)
CFH progression with Placebo Intron Variant rs412852 G>A / G>C / G>T chr1:196734577 (GRCh38.p13)
CFH Intron Variant rs403846 T>A / T>C / T>G chr1:196727607 (GRCh38.p13)
CFH N/A rs88292 N/A N/A
CFH AMD Intron Variant rs529825 G>A / G>C chr1:196665976 (GRCh38.p13)
CFH AMD Intron Variant rs203674 G>T chr1:196715495 (GRCh38.p13)
CFH AMD Intron Variant rs10922109 C>A / C>T chr1:196735502 (GRCh38.p13)
CFH AMD Intron Variant rs10922105 A>C / A>T chr1:196721120 (GRCh38.p13)
CFH wAMD-allele Intron Variant rs1329423 T>A / T>C chr1:196677257 (GRCh38.p13)
CFH wAMD-allele Intron Variant rs742855 T>C chr1:196736390 (GRCh38.p13)
CFH AMD Intron Variant rs10922104 A>C / A>G / A>T chr1:196718600 (GRCh38.p13)
CFH AMD Intron Variant rs203687 C>T chr1:196705140 (GRCh38.p13)
CFH AMD Intron Variant rs375046 C>A / C>G chr1:196736796 (GRCh38.p13)
CFH AMD Intron Variant rs482934 G>A / G>C / G>T chr1:196689367 (GRCh38.p13)
CFH AMD Intron Variant rs35507625 delTT / delT / dupT / dupTT / dupTTT / dup(T)4 / ins(T)10 / ins(T)24delTT / delT / dupT / dupTT / dupTTT / dup(T)4 / ins(T)10 / ins(T)24 chr1:196673840-196673848 (GRCh38.p13)
CFH AMD Intron Variant rs10922103 G>A chr1:196701988 (GRCh38.p13)
CFH AMD Intron Variant rs10922102 C>T chr1:196699157 (GRCh38.p13)
CFH AMD Intron Variant rs3753395 A>G / A>T chr1:196717522 (GRCh38.p13)
CFH exudative AMD Intron Variant rs6664877 C>A / C>T chr1:196715444 (GRCh38.p13)
CFH exudative AMD Intron Variant rs6677460 A>G chr1:196715445 (GRCh38.p13)
CFH exudative AMD Intron Variant rs16840522 T>C chr1:196741786 (GRCh38.p13)
CFH AMD Intron Variant rs10733086 A>C / A>T chr1:196707805 (GRCh38.p13)
CFH nAMD Intron Variant rs7540032 C>T chr1:196732154 (GRCh38.p13)
CFH Intron Variant rs512900 T>C chr1:196653234 (GRCh38.p13)
CFH Intron Variant rs7524776 T>C chr1:196654207 (GRCh38.p13)
CFH Intron Variant rs2019727 T>A / T>G chr1:196705584 (GRCh38.p13)
CFH Intron Variant rs2019724 T>C chr1:196705787 (GRCh38.p13)
CFH Intron Variant rs203685 C>A / C>G / C>T chr1:196708815 (GRCh38.p13)
CFH Intron Variant rs10801560 C>A chr1:196745470 (GRCh38.p13)
CFH Missense Variant rs460897 C>T chr1:196747189 (GRCh38.p13)
CFH Intron Variant rs432007 A>C / A>T chr1:196823334 (GRCh38.p13)
CFH AMD Intron Variant rs7535263 G>A / G>C / G>T chr1:196713216 (GRCh38.p13)
CFH AMD Intron Variant rs10801559 G>A chr1:196735074 (GRCh38.p13)
CFH AMD Intron Variant rs10754199 A>C / A>G / A>T chr1:196701709 (GRCh38.p13)
CFH AMD Intron Variant rs1887973 G>A / G>C / G>T chr1:196706049 (GRCh38.p13)
CFH AMD Intron Variant rs4658046 C>A / C>G / C>T chr1:196701627 (GRCh38.p13)
CFH AMD Intron Variant rs10465586 A>T chr1:196718199 (GRCh38.p13)
CFH AMD Intron Variant rs402056 G>A / G>C chr1:196702856 (GRCh38.p13)
CFH AMD Intron Variant rs7529589 T>A / T>C chr1:196689149 (GRCh38.p13)
CFH AMD Intron Variant rs7514261 G>A / G>T chr1:196731784 (GRCh38.p13)
CFH AMD Intron Variant rs514943 C>A / C>G / C>T chr1:196694783 (GRCh38.p13)
CFH AMD Intron Variant rs11582939 C>T chr1:196741027 (GRCh38.p13)
CFH CNV with treatmenr rs10234070