rs1049331

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1049331(C;T)

Make rs1049331(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

122461754

Gene	HTRA1, LOC105378525

is a	snp
is	mentioned by
dbSNP	rs1049331
dbSNP (classic)	rs1049331
ClinGen	rs1049331
ebi	rs1049331
HLI	rs1049331
Exac	rs1049331
Gnomad	rs1049331
Varsome	rs1049331
LitVar	rs1049331
Map	rs1049331
PheGenI	rs1049331
Biobank	rs1049331
1000 genomes	rs1049331
hgdp	rs1049331
ensembl	rs1049331
geneview	rs1049331
scholar	rs1049331
google	rs1049331
pharmgkb	rs1049331
gwascentral	rs1049331
openSNP	rs1049331
23andMe	rs1049331
SNPshot	rs1049331
SNPdbe	rs1049331
MSV3d	rs1049331
GWAS Ctlg	rs1049331

GMAF

0.2916

Max Magnitude

0

[PMID 18316707 ]

rs11200638 1.7x10-14 (-625G>A)is the most significant associated SNP with a high OR of 7.6 (95%CI: 3.94-14.51)
rs2672598 3.0x10-10 (-487T>C)
rs1049331 3.7x10-12 (102C>T, Ala34Ala)
rs2293870 3.7x10-12 (108G>T, Gly36Gly)
haplotype ACCTT, significantly predisposes to AMD (p= 6.68x10-14)
smoking and rs800292 (184G>A, Val62Ile) of CFH.
The combined OR for disease of smoking and rs11200638 (HTRA1) caused a 15.7 fold increased risk
The combined OR for rs800292 and rs11200638 showed a 23.3 fold increased risk
An extremely high population attributable risk (PAR) of 78% was also found.

[PMID 19796758 ] Comprehensive Analysis of Complement Factor H and LOC387715/ARMS2/HTRA1 Variants with Respect to Phenotype in Advanced Age-related Macular Degeneration

ClinVar
Risk	rs1049331(T;T)
Alt	rs1049331(T;T)
Reference	Rs1049331(C;C)
Significance	Probable-non-pathogenic
Disease	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Macular degeneration
Variation	info
Gene	HTRA1
CLNDBN	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Macular degeneration
Reversed	0
HGVS	NC_000010.10:g.124221270C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020489.1, RCV000334821.1,

[PMID 19026761 ] Molecular pathology of age-related macular degeneration.

[PMID 20140183 ] Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration.

[PMID 23644223 ] Variants at chromosome 10q26 locus and the expression of HTRA1 in the retina

[PMID 24013816 ] Cumulative association between age-related macular degeneration and less studied genetic variants in PLEKHA1/ARMS2/HTRA1: a meta and gene-cluster analysis

[PMID 26310622] Synonymous variants in HTRA1 implicated in AMD susceptibility impair its capacity to regulate TGF-β signaling