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rs3793784

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 normal
(C;G) 2 1.5x risk for ARMD
(G;G) 2 1.6x risk for ARMD
ReferenceGRCh38 38.1/141
Chromosome10
Position49539493
GeneERCC6, ERCC6-PGBD3
is asnp
is mentioned by
dbSNPrs3793784
ebirs3793784
HLIrs3793784
Exacrs3793784
Varsomers3793784
Maprs3793784
PheGenIrs3793784
hapmaprs3793784
1000 genomesrs3793784
hgdprs3793784
ensemblrs3793784
gopubmedrs3793784
geneviewrs3793784
scholarrs3793784
googlers3793784
pharmgkbrs3793784
gwascentralrs3793784
openSNPrs3793784
23andMers3793784
23andMe allrs3793784
SNP Nexus

SNPshotrs3793784
SNPdbers3793784
MSV3drs3793784
GWAS Ctlgrs3793784
GMAF0.2723
Max Magnitude2
? (C;C) (C;G) (G;G) 28
rs3793784, a SNP upstream of the ERCC6 DNA repair gene, has been linked independently and in conjunction with another SNP (rs380390) to age related macular degeneration. On it's own, the odds ratios for increased risk for heterozygotes and homozygotes, were, respectively, 1.51 (CI 1.07-2.11) and 1.60 (CI 0.99-2.61). [PMID 16754848OA-icon.png]

In dbSNP orientation, individuals who are CFH gene SNP genotype rs380390(C;C) and are also rs3793784(G;G) for this (ERCC6) SNP are calculated to be at 23 fold higher risk for developing age related macular degeneration compared to individuals who are homozygous for the more common alleles (among Caucasians) at both loci (ie who are rs380390(G;G) and rs3793784(C;C).[PMID 16754848OA-icon.png]

OMIM609413
DescEXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
Variant
Relatedalso
[PMID 21072178OA-icon.png] The ERCC6 Gene and Age-Related Macular Degeneration
OMIM609413
Desc
Variant0010
Relatedalso
[PMID 17917691OA-icon.png] Genetic markers and biomarkers for age-related macular degeneration.

[PMID 18789574] ERCC6/CSB gene polymorphisms and lung cancer risk.


GET Evidence
rs3793784
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.273438
summary



ClinVar
Risk rs3793784(G;G)
Alt rs3793784(G;G)
Reference rs3793784(C;C)
Significance Other
Disease Age-related macular degeneration 5 LUNG CANCER
Variation info
Gene ERCC6-PGBD3 ERCC6
CLNDBN Age-related macular degeneration 5 LUNG CANCER, SUSCEPTIBILITY TO
Reversed 1
HGVS NC_000010.10:g.50747539G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001778.1, RCV000001779.2,