rs2672598

Orientation

minus

Stabilized

minus

Make rs2672598(A;A)

Make rs2672598(A;G)

Make rs2672598(G;G)

Reference

GRCh38 38.1/142

Chromosome

10

Position

122461166

Gene	HTRA1, LOC105378525

is a	snp
is	mentioned by
dbSNP	rs2672598
dbSNP (classic)	rs2672598
ClinGen	rs2672598
ebi	rs2672598
HLI	rs2672598
Exac	rs2672598
Gnomad	rs2672598
Varsome	rs2672598
LitVar	rs2672598
Map	rs2672598
PheGenI	rs2672598
Biobank	rs2672598
1000 genomes	rs2672598
hgdp	rs2672598
ensembl	rs2672598
geneview	rs2672598
scholar	rs2672598
google	rs2672598
pharmgkb	rs2672598
gwascentral	rs2672598
openSNP	rs2672598
23andMe	rs2672598
SNPshot	rs2672598
SNPdbe	rs2672598
MSV3d	rs2672598
GWAS Ctlg	rs2672598

GMAF

0.4826

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

[PMID 18436811] Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients.

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