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rs587776613

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(AGTTA;AGTTA) 0 common in clinvar
(TAACT;TAACT) 0 common in clinvar
(TAACTT;TAACTT) 0 common in clinvar
Make rs587776613(AGTTA;GTT)
Make rs587776613(GTT;GTT)
ReferenceGRCh38 38.1/142
Chromosome6
Position79916760
GeneELOVL4
is asnp
is mentioned by
dbSNPrs587776613
dbSNP (classic)rs587776613
ClinGenrs587776613
ebirs587776613
HLIrs587776613
Exacrs587776613
Gnomadrs587776613
Varsomers587776613
LitVarrs587776613
Maprs587776613
PheGenIrs587776613
Biobankrs587776613
1000 genomesrs587776613
hgdprs587776613
ensemblrs587776613
geneviewrs587776613
scholarrs587776613
googlers587776613
pharmgkbrs587776613
gwascentralrs587776613
openSNPrs587776613
23andMers587776613
SNPshotrs587776613
SNPdbers587776613
MSV3drs587776613
GWAS Ctlgrs587776613
Max Magnitude0
ClinVar
Risk Rs587776613(AGTTA;AGTTA) rs587776613(GTT;GTT)
Alt Rs587776613(AGTTA;AGTTA) rs587776613(GTT;GTT)
Reference Rs587776613(TAACT;TAACT)
Significance Pathogenic
Disease Stargardt Disease 3
Variation info
Gene ELOVL4
CLNDBN Stargardt Disease 3
Reversed 1
HGVS NC_000006.11:g.80626477_80626481delAGTTAinsGTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000005227.4,