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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the Aliases tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1061170

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr1:196690107 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.32025 (80072/250026, GnomAD_exome)
C=0.34115 (42838/125568, TOPMED)
C=0.32793 (39428/120234, ExAC) (+ 6 more)
C=0.3659 (11449/31290, GnomAD)
C=0.267 (1335/5008, 1000G)
C=0.378 (1456/3854, ALSPAC)
C=0.388 (1438/3708, TWINSUK)
C=0.05 (28/612, Vietnamese)
C=0.39 (234/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CFH : Missense Variant
Publications
312 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 1 NC_000001.11:g.196690107C>T
GRCh37.p13 chr 1 NC_000001.10:g.196659237C>T
CFH RefSeqGene (LRG_47) NG_007259.1:g.43097C>T
Gene: CFH, complement factor H (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CFH transcript variant 1 NM_000186.3:c.1204C>T H [CAT] > Y [TAT] Coding Sequence Variant
complement factor H isoform a precursor NP_000177.2:p.His402Tyr H (His) > Y (Tyr) Missense Variant
CFH transcript variant 2 NM_001014975.2:c.1204C>T H [CAT] > Y [TAT] Coding Sequence Variant
complement factor H isoform b precursor NP_001014975.1:p.His402Tyr H (His) > Y (Tyr) Missense Variant
CFH transcript variant X2 XM_017001108.2:c.1204C>T H [CAT] > Y [TAT] Coding Sequence Variant
complement factor H isoform X1 XP_016856597.1:p.His402Tyr H (His) > Y (Tyr) Missense Variant
CFH transcript variant X1 XR_001737134.2:n.1289C>T N/A Non Coding Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: C= (allele ID: 31588 )
ClinVar Accession Disease Names Clinical Significance
RCV000018015.6 Age-related macular degeneration 4 Risk-Factor
RCV000018016.32 Basal laminar drusen Pathogenic
Allele: T (allele ID: 278205 )
ClinVar Accession Disease Names Clinical Significance
RCV000296616.1 Basal laminar drusen Benign
RCV000327040.1 Macular degeneration Benign
RCV000349294.1 Mesangiocapillary glomerulonephritis, type II Benign
RCV000388493.1 Atypical hemolytic uremic syndrome Benign
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 250026 C=0.32025 T=0.67975
gnomAD - Exomes European Sub 134444 C=0.39261 T=0.60739
gnomAD - Exomes Asian Sub 48856 C=0.2064 T=0.7936
gnomAD - Exomes American Sub 34364 C=0.1665 T=0.8335
gnomAD - Exomes African Sub 16220 C=0.3730 T=0.6270
gnomAD - Exomes Ashkenazi Jewish Sub 10064 C=0.3344 T=0.6656
gnomAD - Exomes Other Sub 6078 C=0.340 T=0.660
TopMed Global Study-wide 125568 C=0.34115 T=0.65885
ExAC Global Study-wide 120234 C=0.32793 T=0.67207
ExAC Europe Sub 72584 C=0.3884 T=0.6116
ExAC Asian Sub 25024 C=0.2139 T=0.7861
ExAC American Sub 11372 C=0.1542 T=0.8458
ExAC African Sub 10354 C=0.3693 T=0.6307
ExAC Other Sub 900 C=0.34 T=0.66
gnomAD - Genomes Global Study-wide 31290 C=0.3659 T=0.6341
gnomAD - Genomes European Sub 18846 C=0.3968 T=0.6032
gnomAD - Genomes African Sub 8682 C=0.371 T=0.629
gnomAD - Genomes East Asian Sub 1548 C=0.043 T=0.957
gnomAD - Genomes Other Sub 1084 C=0.371 T=0.629
gnomAD - Genomes American Sub 840 C=0.22 T=0.78
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.33 T=0.67
1000Genomes Global Study-wide 5008 C=0.267 T=0.733
1000Genomes African Sub 1322 C=0.362 T=0.638
1000Genomes East Asian Sub 1008 C=0.049 T=0.951
1000Genomes Europe Sub 1006 C=0.362 T=0.638
1000Genomes South Asian Sub 978 C=0.29 T=0.71
1000Genomes American Sub 694 C=0.23 T=0.77
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.378 T=0.622
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.388 T=0.612
A Vietnamese Genetic Variation Database Global Study-wide 612 C=0.05 T=0.95
Northern Sweden ACPOP Study-wide 600 C=0.39 T=0.61
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= T Note
GRCh38.p12 chr 1 NC_000001.11:g.196690107= NC_000001.11:g.19669010...

NC_000001.11:g.196690107C>T

GRCh37.p13 chr 1 NC_000001.10:g.196659237= NC_000001.10:g.19665923...

NC_000001.10:g.196659237C>T

CFH RefSeqGene (LRG_47) NG_007259.1:g.43097= NG_007259.1:g.43097C>T
CFH transcript variant 1 NM_000186.3:c.1204= NM_000186.3:c.1204C>T
CFH transcript variant 2 NM_001014975.2:c.1204= NM_001014975.2:c.1204C>T
CFH transcript variant X1 XR_001737134.2:n.1289= XR_001737134.2:n.1289C>T
CFH transcript variant X2 XM_017001108.2:c.1204= XM_017001108.2:c.1204C>T
complement factor H isoform a precursor NP_000177.2:p.His402= NP_000177.2:p.His402Tyr
complement factor H isoform b precursor NP_001014975.1:p.His402= NP_001014975.1:p.His402Tyr
complement factor H isoform X1 XP_016856597.1:p.His402= XP_016856597.1:p.His402Tyr
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

95 SubSNP, 9 Frequency, 6 ClinVar submissions
No Submitter Submission ID Date (Build)
1 LEE ss1545807 Oct 05, 2000 (86)
2 CGAP-GAI ss4322219 Jan 04, 2002 (102)
3 CGAP-GAI ss16227275 Feb 27, 2004 (120)
4 SSAHASNP ss20487092 Apr 05, 2004 (121)
5 ABI ss41142758 Mar 13, 2006 (126)
6 PGA-UW-FHCRC ss48532102 Mar 13, 2006 (126)
7 ILLUMINA ss66539826 Dec 02, 2006 (127)
8 ILLUMINA ss66896560 Dec 02, 2006 (127)
9 ILLUMINA ss67006685 Dec 02, 2006 (127)
10 CGM_KYOTO ss76864743 Dec 06, 2007 (129)
11 KRIBB_YJKIM ss83676110 Dec 15, 2007 (130)
12 CORNELL ss86271998 Mar 23, 2008 (129)
13 HUMANGENOME_JCVI ss99275686 Feb 06, 2009 (130)
14 BGI ss102810339 Feb 06, 2009 (130)
15 ILLUMINA-UK ss119164398 Feb 15, 2009 (130)
16 ENSEMBL ss131730966 Dec 01, 2009 (131)
17 ENSEMBL ss138131673 Dec 01, 2009 (131)
18 GMI ss156119438 Dec 01, 2009 (131)
19 SEATTLESEQ ss159699978 Dec 01, 2009 (131)
20 ILLUMINA ss159911540 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss165646749 Jul 04, 2010 (132)
22 OMICIA ss169599978 Aug 28, 2012 (137)
23 ILLUMINA ss170397983 Jul 04, 2010 (132)
24 PAGE_STUDY ss181836037 Jul 04, 2010 (132)
25 BUSHMAN ss199446004 Jul 04, 2010 (132)
26 1000GENOMES ss218809783 Jul 14, 2010 (132)
27 1000GENOMES ss230847665 Jul 14, 2010 (132)
28 ILLUMINA ss244269719 Jul 04, 2010 (132)
29 BL ss253727712 May 09, 2011 (134)
30 OMIM-CURATED-RECORDS ss275514511 Nov 22, 2010 (133)
31 GMI ss276163242 May 04, 2012 (137)
32 GMI ss284204552 Apr 25, 2013 (138)
33 PJP ss290697385 May 09, 2011 (134)
34 NHLBI-ESP ss342017997 May 09, 2011 (134)
35 ILLUMINA ss479712045 Sep 08, 2015 (146)
36 1000GENOMES ss489783316 May 04, 2012 (137)
37 EXOME_CHIP ss491307760 May 04, 2012 (137)
38 CLINSEQ_SNP ss491611774 May 04, 2012 (137)
39 SSMP ss648606822 Apr 25, 2013 (138)
40 ILLUMINA ss783353904 Sep 08, 2015 (146)
41 JMKIDD_LAB ss974438845 Aug 21, 2014 (142)
42 EVA-GONL ss975995438 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1067430068 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1068496201 Aug 21, 2014 (142)
45 1000GENOMES ss1294097876 Aug 21, 2014 (142)
46 HAMMER_LAB ss1397268332 Sep 08, 2015 (146)
47 DDI ss1426069975 Apr 01, 2015 (144)
48 EVA_FINRISK ss1584013746 Apr 01, 2015 (144)
49 EVA_DECODE ss1585390631 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1601840715 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1644834748 Apr 01, 2015 (144)
52 EVA_EXAC ss1685969509 Apr 01, 2015 (144)
53 EVA_MGP ss1710937090 Apr 01, 2015 (144)
54 HAMMER_LAB ss1795525029 Sep 08, 2015 (146)
55 ILLUMINA ss1917739905 Feb 12, 2016 (147)
56 WEILL_CORNELL_DGM ss1919226586 Feb 12, 2016 (147)
57 ILLUMINA ss1958343621 Feb 12, 2016 (147)
58 GENOMED ss1966938865 Jul 19, 2016 (147)
59 JJLAB ss2020131997 Sep 14, 2016 (149)
60 ILLUMINA ss2094785641 Dec 20, 2016 (150)
61 USC_VALOUEV ss2148159049 Dec 20, 2016 (150)
62 TOPMED ss2331546223 Dec 20, 2016 (150)
63 SYSTEMSBIOZJU ss2624573817 Nov 08, 2017 (151)
64 ILLUMINA ss2632611347 Nov 08, 2017 (151)
65 ILLUMINA ss2632611348 Nov 08, 2017 (151)
66 GRF ss2698146967 Nov 08, 2017 (151)
67 GNOMAD ss2732143750 Nov 08, 2017 (151)
68 GNOMAD ss2746523223 Nov 08, 2017 (151)
69 GNOMAD ss2764653068 Nov 08, 2017 (151)
70 AFFY ss2984889214 Nov 08, 2017 (151)
71 AFFY ss2985534132 Nov 08, 2017 (151)
72 SWEGEN ss2988222525 Nov 08, 2017 (151)
73 ILLUMINA ss3021165134 Nov 08, 2017 (151)
74 EVA_SAMSUNG_MC ss3023057442 Nov 08, 2017 (151)
75 TOPMED ss3099806164 Nov 08, 2017 (151)
76 CSHL ss3343847563 Nov 08, 2017 (151)
77 ILLUMINA ss3626274806 Oct 11, 2018 (152)
78 ILLUMINA ss3634364980 Oct 11, 2018 (152)
79 ILLUMINA ss3636044219 Oct 11, 2018 (152)
80 ILLUMINA ss3638918274 Oct 11, 2018 (152)
81 ILLUMINA ss3639457757 Oct 11, 2018 (152)
82 ILLUMINA ss3640072334 Oct 11, 2018 (152)
83 OMUKHERJEE_ADBS ss3646250438 Oct 11, 2018 (152)
84 URBANLAB ss3646856916 Oct 11, 2018 (152)
85 ILLUMINA ss3651505563 Oct 11, 2018 (152)
86 ILLUMINA ss3653658791 Oct 11, 2018 (152)
87 EVA_DECODE ss3688354955 Jul 12, 2019 (153)
88 ACPOP ss3727740114 Jul 12, 2019 (153)
89 ILLUMINA ss3744357439 Jul 12, 2019 (153)
90 ILLUMINA ss3744665835 Jul 12, 2019 (153)
91 EVA ss3747164790 Jul 12, 2019 (153)
92 PACBIO ss3783650142 Jul 12, 2019 (153)
93 PACBIO ss3789268426 Jul 12, 2019 (153)
94 PACBIO ss3794140599 Jul 12, 2019 (153)
95 KHV_HUMAN_GENOMES ss3800171570 Jul 12, 2019 (153)
96 1000Genomes NC_000001.10 - 196659237 Oct 11, 2018 (152)
97 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 196659237 Oct 11, 2018 (152)
98 ExAC NC_000001.10 - 196659237 Oct 11, 2018 (152)
99 gnomAD - Genomes NC_000001.10 - 196659237 Jul 12, 2019 (153)
100 gnomAD - Exomes NC_000001.10 - 196659237 Jul 12, 2019 (153)
101 Northern Sweden NC_000001.10 - 196659237 Jul 12, 2019 (153)
102 TopMed NC_000001.11 - 196690107 Oct 11, 2018 (152)
103 UK 10K study - Twins NC_000001.10 - 196659237 Oct 11, 2018 (152)
104 A Vietnamese Genetic Variation Database NC_000001.10 - 196659237 Jul 12, 2019 (153)
105 ClinVar RCV000018015.6 Jul 12, 2019 (153)
106 ClinVar RCV000018016.32 Jul 12, 2019 (153)
107 ClinVar RCV000296616.1 Oct 11, 2018 (152)
108 ClinVar RCV000327040.1 Oct 11, 2018 (152)
109 ClinVar RCV000349294.1 Oct 11, 2018 (152)
110 ClinVar RCV000388493.1 Oct 11, 2018 (152)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs60173482 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638918274, ss3639457757 NC_000001.8:193390893:C:T NC_000001.11:196690106:C:T (self)
ss119164398, ss165646749, ss199446004, ss253727712, ss276163242, ss284204552, ss290697385, ss491611774, ss1397268332, ss1585390631 NC_000001.9:194925859:C:T NC_000001.11:196690106:C:T (self)
4932456, 2709403, 5200066, 13487283, 1175422, 1024979, 2709403, 585802, ss218809783, ss230847665, ss342017997, ss479712045, ss489783316, ss491307760, ss648606822, ss783353904, ss974438845, ss975995438, ss1067430068, ss1068496201, ss1294097876, ss1426069975, ss1584013746, ss1601840715, ss1644834748, ss1685969509, ss1710937090, ss1795525029, ss1917739905, ss1919226586, ss1958343621, ss1966938865, ss2020131997, ss2094785641, ss2148159049, ss2331546223, ss2624573817, ss2632611347, ss2632611348, ss2698146967, ss2732143750, ss2746523223, ss2764653068, ss2984889214, ss2985534132, ss2988222525, ss3021165134, ss3023057442, ss3343847563, ss3626274806, ss3634364980, ss3636044219, ss3640072334, ss3646250438, ss3651505563, ss3653658791, ss3727740114, ss3744357439, ss3744665835, ss3747164790, ss3783650142, ss3789268426, ss3794140599 NC_000001.10:196659236:C:T NC_000001.11:196690106:C:T (self)
RCV000296616.1, RCV000327040.1, RCV000349294.1, RCV000388493.1, 26598788, ss169599978, ss275514511, ss3099806164, ss3646856916, ss3688354955, ss3800171570 NC_000001.11:196690106:C:T NC_000001.11:196690106:C:T (self)
ss1545807, ss4322219, ss16227275, ss41142758, ss48532102, ss66539826, ss66896560, ss67006685, ss76864743, ss83676110, ss86271998, ss99275686, ss102810339, ss131730966, ss138131673, ss156119438, ss159699978, ss159911540, ss170397983, ss181836037, ss244269719 NT_004487.19:48147878:C:T NC_000001.11:196690106:C:T (self)
ss20487092 NT_004671.15:8014222:C:T NC_000001.11:196690106:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

312 citations for rs1061170
PMID Title Author Year Journal
11978762 VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Héon E et al. 2002 Human molecular genetics
15761120 Complement factor H variant increases the risk of age-related macular degeneration. Haines JL et al. 2005 Science (New York, N.Y.)
15761121 Complement factor H polymorphism and age-related macular degeneration. Edwards AO et al. 2005 Science (New York, N.Y.)
15761122 Complement factor H polymorphism in age-related macular degeneration. Klein RJ et al. 2005 Science (New York, N.Y.)
15870199 A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Hageman GS et al. 2005 Proceedings of the National Academy of Sciences of the United States of America
15895326 Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Zareparsi S et al. 2005 American journal of human genetics
16080115 Susceptibility genes for age-related maculopathy on chromosome 10q26. Jakobsdottir J et al. 2005 American journal of human genetics
16518403 Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Gold B et al. 2006 Nature genetics
16519819 Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases. Smyth DJ et al. 2006 BMC medical genetics
16612335 Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). Licht C et al. 2006 Kidney international
16619239 Long-range PCR facilitates the identification of PMS2-specific mutations. Clendenning M et al. 2006 Human mutation
16630992 A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam Study. Kardys I et al. 2006 Journal of the American College of Cardiology
16642439 Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Schmidt S et al. 2006 American journal of human genetics
16710702 No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese. Gotoh N et al. 2006 Human genetics
16723442 A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive protein, and risk of age-related macular degeneration. Schaumberg DA et al. 2006 Investigative ophthalmology & visual science
16787919 His-384 allotypic variant of factor H associated with age-related macular degeneration has different heparin binding properties from the non-disease-associated form. Clark SJ et al. 2006 The Journal of biological chemistry
16816528 CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. Seddon JM et al. 2006 Human heredity
16828512 Complement factor H increases risk for atrophic age-related macular degeneration. Postel EA et al. 2006 Ophthalmology
16865697 Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His. Grassi MA et al. 2006 Human mutation
16936733 CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Li M et al. 2006 Nature genetics
17022693 Determination of complement factor H functional polymorphisms (V62I, Y402H, and E936D) using sequence-specific primer PCR and restriction fragment length polymorphisms. Bíró A et al. 2006 Molecular diagnosis & therapy
17050575 Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate. Fisher SA et al. 2007 The British journal of ophthalmology
17079491 Individuals homozygous for the age-related macular degeneration risk-conferring variant of complement factor H have elevated levels of CRP in the choroid. Johnson PT et al. 2006 Proceedings of the National Academy of Sciences of the United States of America
17167412 Association of complement factor H polymorphisms with exudative age-related macular degeneration. Chen LJ et al. 2006 Molecular vision
17198853 Population-based study of early age-related macular degeneration: role of the complement factor H Y402H polymorphism in bilateral but not unilateral disease. Tedeschi-Blok N et al. 2007 Ophthalmology
17210853 Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism. Shuler RK Jr et al. 2007 Archives of ophthalmology (Chicago, Ill.
17210858 Complement factor H polymorphism p.Tyr402His and cuticular Drusen. Grassi MA et al. 2007 Archives of ophthalmology (Chicago, Ill.
17241667 Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration. Scott WK et al. 2007 Ophthalmology
17293598 The factor H variant associated with age-related macular degeneration (His-384) and the non-disease-associated form bind differentially to C-reactive protein, fibromodulin, DNA, and necrotic cells. Sjöberg AP et al. 2007 The Journal of biological chemistry
17314151 Fine-scale linkage disequilibrium mapping of age-related macular degeneration in the complement factor H gene region. Ennis S et al. 2007 The British journal of ophthalmology
17327825 An update on the genetics of age-related macular degeneration. Scholl HP et al. 2007 Molecular vision
17360715 Structure shows that a glycosaminoglycan and protein recognition site in factor H is perturbed by age-related macular degeneration-linked single nucleotide polymorphism. Herbert AP et al. 2007 The Journal of biological chemistry
17398321 Association of complement factor H Y402H gene polymorphism with different subtypes of exudative age-related macular degeneration. Wegscheider BJ et al. 2007 Ophthalmology
17591627 Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes. Thompson CL et al. 2007 Human molecular genetics
17697822 Usefulness of combining complement factor H and C-reactive protein genetic profiles for predicting myocardial infarction (from the Rotterdam Study). Kardys I et al. 2007 The American journal of cardiology
17877809 Genetic variants of complement factor H gene are not associated with premature coronary heart disease: a family-based study in the Irish population. Meng W et al. 2007 BMC medical genetics
17917691 Genetic markers and biomarkers for age-related macular degeneration. Ross RJ et al. 2007 Expert review of ophthalmology
17940599 Assembly of inflammation-related genes for pathway-focused genetic analysis. Loza MJ et al. 2007 PloS one
17962488 Coding and noncoding variants in the CFH gene and cigarette smoking influence the risk of age-related macular degeneration in a Japanese population. Mori K et al. 2007 Investigative ophthalmology & visual science
18043728 Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration. Francis PJ et al. 2007 PloS one
18067970 Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) in age-related macular degeneration. Shuler RK Jr et al. 2008 Ophthalmology
18081690 Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H. de Córdoba SR et al. 2008 Clinical and experimental immunology
18162041 Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking. Hughes AE et al. 2007 PLoS medicine
18248681 Prevalence of common disease-associated variants in Asian Indians. Pemberton TJ et al. 2008 BMC genetics
18252232 Basal laminar drusen caused by compound heterozygous variants in the CFH gene. Boon CJ et al. 2008 American journal of human genetics
18252712 Structure of the N-terminal region of complement factor H and conformational implications of disease-linked sequence variations. Hocking HG et al. 2008 The Journal of biological chemistry
18316707 HTRA1 variants in exudative age-related macular degeneration and interactions with smoking and CFH. Tam PO et al. 2008 Investigative ophthalmology & visual science
18378209 Vascular endothelial growth factor gene polymorphisms in age-related macular degeneration. Lin JM et al. 2008 American journal of ophthalmology
18423869 CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration. Klein ML et al. 2008 Ophthalmology
18436811 Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients. Kaur I et al. 2008 Investigative ophthalmology & visual science
18493315 C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes. Jakobsdottir J et al. 2008 PloS one
18515590 Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy. Lee KY et al. 2008 Investigative ophthalmology & visual science
18541031 The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration. Zhang H et al. 2008 BMC medical genetics
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25596882 Genetic predictive biomarkers of anti-VEGF treatment response in patients with neovascular age-related macular degeneration. Fauser S et al. 2015 Survey of ophthalmology
25612476 Investigating the CFH Gene Polymorphisms as a Risk Factor for Age-related Macular Degeneration in an Iranian Population. Babanejad M et al. 2016 Ophthalmic genetics
25627090 Age-related macular degeneration phenotypes associated with mutually exclusive homozygous risk variants in CFH and HTRA1 genes. Chong EW et al. 2015 Retina (Philadelphia, Pa.)
25786237 Lens status influences the association between CFH polymorphisms and age-related macular degeneration: findings from two population-based studies in Singapore. Wong CW et al. 2015 PloS one
25792034 Calcium, ARMS2 genotype, and Chlamydia pneumoniae infection in early age-related macular degeneration: a multivariate analysis from the Nagahama study. Nakata I et al. 2015 Scientific reports
25883802 Joint Effect of CFH and ARMS2/HTRA1 Polymorphisms on Neovascular Age-Related Macular Degeneration in Chinese Population. Fang K et al. 2015 Journal of ophthalmology
25905023 Small Drusen and Age-Related Macular Degeneration: The Beaver Dam Eye Study. Klein R et al. 2015 Journal of clinical medicine
26116897 Pathway-focused genetic evaluation of immune and inflammation related genes with chronic fatigue syndrome. Rajeevan MS et al. 2015 Human immunology
26152901 CFH polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration. García M et al. 2015 Acta ophthalmologica
26154559 The genetic variant rs4073 A→T of the Interleukin-8 promoter region is associated with the earlier onset of exudative age-related macular degeneration. Hautamäki A et al. 2015 Acta ophthalmologica
26171855 Analysis of Genetic and Environmental Risk Factors and Their Interactions in Korean Patients with Age-Related Macular Degeneration. Woo SJ et al. 2015 PloS one
26207622 Association Study of Mannose-Binding Lectin Levels and Genetic Variants in Lectin Pathway Proteins with Susceptibility to Age-Related Macular Degeneration: A Case-Control Study. Osthoff M et al. 2015 PloS one
26217379 Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world. Morrison MA et al. 2015 Frontiers in genetics
26243271 CFH Variants Affect Structural and Functional Brain Changes and Genetic Risk of Alzheimer's Disease. Zhang DF et al. 2016 Neuropsychopharmacology
26255974 A Validated Phenotyping Algorithm for Genetic Association Studies in Age-related Macular Degeneration. Simonett JM et al. 2015 Scientific reports
26383995 The Incidence and Progression of Age-Related Macular Degeneration over 15 Years: The Blue Mountains Eye Study. Joachim N et al. 2015 Ophthalmology
26411831 Pharmacogenetics of Complement Factor H Y402H Polymorphism and Treatment of Neovascular AMD with Anti-VEGF Agents: A Meta-Analysis. Chen G et al. 2015 Scientific reports
26493033 Complement pathway biomarkers and age-related macular degeneration. Gemenetzi M et al. 2016 Eye (London, England)
26559391 The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies. Phillips EH et al. 2016 Journal of thrombosis and haemostasis
26614632 Extramacular drusen are highly associated with age-related macular degeneration, but not with CFH and ARMS2 genotypes. Ersoy L et al. 2016 The British journal of ophthalmology
26681391 Reticular Pseudodrusen and Their Association with Age-Related Macular Degeneration: The Melbourne Collaborative Cohort Study. Finger RP et al. 2016 Ophthalmology
26727378 Association of Two Polymorphisms, rs1061170 and rs1410996, in Complement Factor H with Age-Related Macular Degeneration in an Asian Population: A Meta-Analysis. Wu M et al. 2016 Ophthalmic research
26896123 Incidence of Age-Related Macular Degeneration in a Multi-Ethnic United States Population: The Multi-Ethnic Study of Atherosclerosis. Fisher DE et al. 2016 Ophthalmology
26918864 Prevalence and Genetic Characteristics of Geographic Atrophy among Elderly Japanese with Age-Related Macular Degeneration. Sakurada Y et al. 2016 PloS one
26941266 Complement factor H and susceptibility to major depressive disorder in Han Chinese. Zhang C et al. 2016 The British journal of psychiatry
27068115 The dysfunctions of complement factor H in lupus nephritis. Wang FM et al. 2016 Lupus
27116510 Effect of Risk Alleles in CFH, C3, and VEGFA on the Response to Intravitreal Bevacizumab in Tunisian Patients with Neovascular Age-related Macular Degeneration. Habibi I et al. 2016 Klinische Monatsblatter fur Augenheilkunde
27151934 Association of the polymorphism Y402H in the CFH gene with response to anti-VEGF treatment in age-related macular degeneration: a systematic review and meta-analysis. Hong N et al. 2016 Acta ophthalmologica
27239555 Oxidative stress, innate immunity, and age-related macular degeneration. Shaw PX et al. 2016 AIMS molecular science
27239600 Complement factor H and LOC387715/ARMS2/HTRA1 variant's frequencies and phenotypic associations in neovascular age-related macular degeneration, a pilot study. Karkhane R et al. 2016 Journal of current ophthalmology
27241480 A Novel Complotype Combination Associates with Age-Related Macular Degeneration and High Complement Activation Levels in vivo. Paun CC et al. 2016 Scientific reports
27252648 AMD Genetics in India: The Missing Links. Anand A et al. 2016 Frontiers in aging neuroscience
27257685 Genetics of Unilateral and Bilateral Age-Related Macular Degeneration Severity Stages. Schick T et al. 2016 PloS one
27258093 Analysis of Risk Alleles and Complement Activation Levels in Familial and Non-Familial Age-Related Macular Degeneration. Saksens NT et al. 2016 PloS one
27269047 Association of Combined Complement Factor H Y402H and ARMS/LOC387715 A69S Polymorphisms with Age-related Macular Degeneration: A Meta-analysis. Jabbarpoor Bonyadi MH et al. 2016 Current eye research
27306948 Complement gene variants in relation to autoantibodies to beta cell specific antigens and type 1 diabetes in the TEDDY Study. Törn C et al. 2016 Scientific reports
27420564 No Sex Differences in the Frequencies of Common Single Nucleotide Polymorphisms Associated with Age-Related Macular Degeneration. Popp NA et al. 2017 Current eye research
27605007 Proteomics-based identification and validation of novel plasma biomarkers phospholipid transfer protein and mannan-binding lectin serine protease-1 in age-related macular degeneration. Kim HJ et al. 2016 Scientific reports
27643879 Evaluation of 10 AMD Associated Polymorphisms as a Cause of Choroidal Neovascularization in Highly Myopic Eyes. Velazquez-Villoria A et al. 2016 PloS one
27778189 C-reactive protein and complement factor H polymorphism interaction in advanced exudative age-related macular degeneration. Soheilian R et al. 2017 International ophthalmology
27832277 Progression Rate From Intermediate to Advanced Age-Related Macular Degeneration Is Correlated With the Number of Risk Alleles at the CFH Locus. Sardell RJ et al. 2016 Investigative ophthalmology & visual science
27871254 Familial aggregation of albuminuria and arterial hypertension in an Aboriginal Australian community and the contribution of variants in ACE and TP53. Duffy DL et al. 2016 BMC nephrology
28332910 Association between Dietary Xanthophyll (Lutein and Zeaxanthin) Intake and Early Age-Related Macular Degeneration: The Atherosclerosis Risk in Communities Study. Lin H et al. 2017 Ophthalmic epidemiology
28403670 Genetic variants in FH are associated with renal histopathologic subtypes of lupus nephritis: a large cohort study from China. Tan M et al. 2017 Lupus
28717807 Vitamin D Status and Prevalent Early Age-Related Macular Degeneration in African Americans and Caucasians: The Atherosclerosis Risk in Communities (ARIC) Study. Millen AE et al. 2017 The journal of nutrition, health & aging
28912512 Assessing individual risk for AMD with genetic counseling, family history, and genetic testing. Cascella R et al. 2018 Eye (London, England)
29259020 Genetic risk factors for late age-related macular degeneration in India. Rajendran A et al. 2018 The British journal of ophthalmology
29453225 Prevalence of age-related macular degeneration associated genetic risk factors and 4-year progression data in the Irish population. Connolly E et al. 2018 The British journal of ophthalmology
29579787 Significant SNPs Related to Telomere Length and Hepatocellular Carcinoma Risk in Chronic Hepatitis B Carriers Mohamadkhani A et al. 2018 Asian Pacific journal of cancer prevention
29700787 Exploring the Use of Molecular Biomarkers for Precision Medicine in Age-Related Macular Degeneration. Lorés-Motta L et al. 2018 Molecular diagnosis & therapy
29801032 Association of Single-Nucleotide Polymorphisms in Age-Related Macular Degeneration With Pseudodrusen: Secondary Analysis of Data From the Comparison of AMD Treatments Trials. Lin LY et al. 2018 JAMA ophthalmology
29912491 Association between Y402H, E318D and R102G polymorphisms of complement proteins genes and the response to intravitreal anti-VEGF treatment in patients with neovascular age-related macular degeneration. Kubicka-Trząska A et al. 2016 Klinika oczna
30071029 Evaluation of serum sphingolipids and the influence of genetic risk factors in age-related macular degeneration. Pujol-Lereis LM et al. 2018 PloS one
30300269 GENETIC RISK FACTORS IN ACUTE CENTRAL SEROUS CHORIORETINOPATHY. Mohabati D et al. 2019 Retina (Philadelphia, Pa.)
30596689 Thickness of retina and choroid in the elderly population and its association with Complement Factor H polymorphism: KLoSHA Eye study. Ryoo NK et al. 2018 PloS one
30681643 GENETICS OF LARGE PIGMENT EPITHELIAL DETACHMENTS IN NEOVASCULAR AGE-RELATED MACULAR DEGENERATION. Mouallem-Beziere A et al. 2019 Retina (Philadelphia, Pa.)
30895599 Association of rs10490924 in ARMS2/HTRA1 with age-related macular degeneration in the Pakistani population. Ayub H et al. 2019 Annals of human genetics
30996586 Screening of CRISPR/Cas base editors to target the AMD high-risk Y402H complement factor H variant. Tran MTN et al. 2019 Molecular vision
31031394 Complement factor H gene polymorphisms and vivax malaria associated thrombotic microangiopathy. Agrawal P et al. 2019 Saudi journal of kidney diseases and transplantation
31047378 Joint Contribution of Genetic Susceptibility and Modifiable Factors to the Progression of Age-Related Macular Degeneration over 10 Years: The Three Continent AMD Consortium Report. Joachim N et al. 2018 Ophthalmology. Retina

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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