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rs869312871

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312871(A;A)
Make rs869312871(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position8358242
GeneRERE
is asnp
is mentioned by
dbSNPrs869312871
ebirs869312871
HLIrs869312871
Exacrs869312871
Varsomers869312871
Maprs869312871
PheGenIrs869312871
hapmaprs869312871
1000 genomesrs869312871
hgdprs869312871
ensemblrs869312871
gopubmedrs869312871
geneviewrs869312871
scholarrs869312871
googlers869312871
pharmgkbrs869312871
gwascentralrs869312871
openSNPrs869312871
23andMers869312871
23andMe allrs869312871
SNP Nexus

SNPshotrs869312871
SNPdbers869312871
MSV3drs869312871
GWAS Ctlgrs869312871
Max Magnitude0
ClinVar
Risk rs869312871(A;A)
Alt rs869312871(A;A)
Reference rs869312871(C;C)
Significance Pathogenic
Disease Cerebral visual impairment and intellectual disability Neurodevelopmental disorder with or without anomalies of the brain
Variation info
Gene RERE
CLNDBN Cerebral visual impairment and intellectual disability Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
Reversed 1
HGVS NC_000001.10:g.8418302G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210403.1, RCV000225351.1,