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rs281865377

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs281865377(-;C)
Make rs281865377(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position94029446
GeneABCA4
is asnp
is mentioned by
dbSNPrs281865377
dbSNP (classic)rs281865377
ClinGenrs281865377
ebirs281865377
HLIrs281865377
Exacrs281865377
Gnomadrs281865377
Varsomers281865377
LitVarrs281865377
Maprs281865377
PheGenIrs281865377
Biobankrs281865377
1000 genomesrs281865377
hgdprs281865377
ensemblrs281865377
geneviewrs281865377
scholarrs281865377
googlers281865377
pharmgkbrs281865377
gwascentralrs281865377
openSNPrs281865377
23andMers281865377
SNPshotrs281865377
SNPdbers281865377
MSV3drs281865377
GWAS Ctlgrs281865377
Max Magnitude0
ClinVar
Risk rs281865377(C;C)
Alt rs281865377(C;C)
Reference Rs281865377(-;-)
Significance Pathogenic
Disease not provided Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN not provided Stargardt disease 1
Reversed 1
HGVS NC_000001.10:g.94495003dupG
CLNSRC
CLNACC RCV000085645.1, RCV000210298.1,