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rs3812153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs3812153(A;G)
Make rs3812153(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position79916658
GeneELOVL4
is asnp
is mentioned by
dbSNPrs3812153
ebirs3812153
HLIrs3812153
Exacrs3812153
Varsomers3812153
Maprs3812153
PheGenIrs3812153
hapmaprs3812153
1000 genomesrs3812153
hgdprs3812153
ensemblrs3812153
gopubmedrs3812153
geneviewrs3812153
scholarrs3812153
googlers3812153
pharmgkbrs3812153
gwascentralrs3812153
openSNPrs3812153
23andMers3812153
23andMe allrs3812153
SNP Nexus

SNPshotrs3812153
SNPdbers3812153
MSV3drs3812153
GWAS Ctlgrs3812153
GMAF0.1864
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene ELOVL4
allele C
frequency 0.167
sift TOLERATED
HuRef 1103652914136
Disease Association Defects in ELOVL4 are a cause of autosomal dominant Stargardt-like macular dystrophy (ADMD) (MIM:600110).



[PMID 20388345] [Association of M299V variant in ELOVL4 gene with exudative age-related macular degeneration in a Chinese population].


GET Evidence
ELOVL4-M299V
aa_change Met299Val
aa_change_short M299V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.149749
summary



[PMID 22948568] Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration


ClinVar
Risk rs3812153(G;G)
Alt rs3812153(G;G)
Reference rs3812153(A;A)
Significance Non-pathogenic
Disease not provided not specified
Variation info
Gene ELOVL4
CLNDBN not provided not specified
Reversed 1
HGVS NC_000006.11:g.80626375T>C
CLNSRC HGMD
CLNACC RCV000124885.1, RCV000153195.3,