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rs104893946

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893946(C;G)
Make rs104893946(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position79916743
GeneELOVL4
is asnp
is mentioned by
dbSNPrs104893946
ebirs104893946
HLIrs104893946
Exacrs104893946
Varsomers104893946
Maprs104893946
PheGenIrs104893946
hapmaprs104893946
1000 genomesrs104893946
hgdprs104893946
ensemblrs104893946
gopubmedrs104893946
geneviewrs104893946
scholarrs104893946
googlers104893946
pharmgkbrs104893946
gwascentralrs104893946
openSNPrs104893946
23andMers104893946
23andMe allrs104893946
SNP Nexus

SNPshotrs104893946
SNPdbers104893946
MSV3drs104893946
GWAS Ctlgrs104893946
Max Magnitude0
OMIM605512
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104893946(G;G)
Alt rs104893946(G;G)
Reference rs104893946(C;C)
Significance Pathogenic
Disease Stargardt Disease 3
Variation info
Gene ELOVL4
CLNDBN Stargardt Disease 3
Reversed 1
HGVS NC_000006.11:g.80626460G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005228.2,