rs547154

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	2.1	0.47x decreased risk for AMD
(A;C)	2.1	0.47x decreased risk for AMD
(C;C)	0	normal

Reference

GRCh38 38.1/141

Chromosome

6

Position

31943161

Gene	C2, C2-AS1

is a	snp
is	mentioned by
dbSNP	rs547154
dbSNP (classic)	rs547154
ClinGen	rs547154
ebi	rs547154
HLI	rs547154
Exac	rs547154
Gnomad	rs547154
Varsome	rs547154
LitVar	rs547154
Map	rs547154
PheGenI	rs547154
Biobank	rs547154
1000 genomes	rs547154
hgdp	rs547154
ensembl	rs547154
geneview	rs547154
scholar	rs547154
google	rs547154
pharmgkb	rs547154
gwascentral	rs547154
openSNP	rs547154
23andMe	rs547154
SNPshot	rs547154
SNPdbe	rs547154
MSV3d	rs547154
GWAS Ctlg	rs547154

GMAF

0.09963

Max Magnitude

2.1

?	(A;A) (A;C) (C;C)	28

[PMID 18493315] rs547154 significantly associated with Age-related maculopathy in both our case-control (P-value 0.00007) and family data (P-value 0.00001).

[PMID 19399715] Impact of interacting functional variants in COMT on regional gray matter volume in human brain

OMIM	217000
Desc	COMPLEMENT COMPONENT 2 DEFICIENCY
Variant
Related	also

[PMID 19556007] Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology

OMIM	217000
Desc
Variant	0005
Related	also

[PMID 22440158] CFB/C2 Gene Polymorphisms and Risk of Age-Related Macular Degeneration: A Systematic Review and Meta-Analysis

[PMID 22509112] Genetic associations in polypoidal choroidal vasculopathy: A systematic review and meta-analysis

[PMID 17576744] Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration.

[PMID 17917691] Genetic markers and biomarkers for age-related macular degeneration.

[PMID 18806293] Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration (AMD).

[PMID 18806297] Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration.

[PMID 19169411] Common variation in the SERPING1 gene is not associated with age-related macular degeneration in two independent groups of subjects.

[PMID 19259132] Multilocus analysis of age-related macular degeneration.

[PMID 19696172] The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration.

[PMID 20157352] Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population.

[PMID 20378180] Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy.

[PMID 21609242] Age-related macular degeneration-susceptibility single nucleotide polymorphisms in a han chinese control population.

[PMID 22232432] Significance of C2/CFB variants in age-related macular degeneration and polypoidal choroidal vasculopathy in a Japanese population.

[PMID 22273503] Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population.

[PMID 23582991] Genetic Influences on the Outcome of Anti-Vascular Endothelial Growth Factor Treatment in Neovascular Age-related Macular Degeneration

[PMID 25732348] C2 rs547154 polymorphism and polypoidal choroidal vasculopathy susceptibility: a meta-analysis

ClinVar
Risk	Rs547154(A;A)
Alt	Rs547154(A;A)
Reference	Rs547154(C;C)
Significance	Other
Disease	Age-related macular degeneration 14
Variation	info
Gene	C2-AS1 C2
CLNDBN	Age-related macular degeneration 14
Reversed	1
HGVS	NC_000006.11:g.31910938G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012914.4,

[PMID 27099955] Single-Nucleotide Polymorphisms Associated With Age-Related Macular Degeneration and Lesion Phenotypes in the Comparison of Age-Related Macular Degeneration Treatments Trials.

[PMID 29259020] Genetic risk factors for late age-related macular degeneration in India.

[PMID 31916060] Investigation of genetic base in the treatment of age-related macular degeneration.