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rs387906387

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906387(-;-)
Make rs387906387(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position94079336
GeneABCA4
is asnp
is mentioned by
dbSNPrs387906387
ebirs387906387
HLIrs387906387
Exacrs387906387
Varsomers387906387
Maprs387906387
PheGenIrs387906387
hapmaprs387906387
1000 genomesrs387906387
hgdprs387906387
ensemblrs387906387
gopubmedrs387906387
geneviewrs387906387
scholarrs387906387
googlers387906387
pharmgkbrs387906387
gwascentralrs387906387
openSNPrs387906387
23andMers387906387
23andMe allrs387906387
SNP Nexus

SNPshotrs387906387
SNPdbers387906387
MSV3drs387906387
GWAS Ctlgrs387906387
Max Magnitude0
ClinVar
Risk rs387906387(;)
Alt rs387906387(;)
Reference rs387906387(A;A)
Significance Pathogenic
Disease Retinal dystrophy
Variation info
Gene ABCA4
CLNDBN Retinal dystrophy, early-onset severe
Reversed 1
HGVS NC_000001.10:g.94544892delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000008364.2,