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rs869312867

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312867(C;G)
Make rs869312867(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position23536610
GeneSOX5
is asnp
is mentioned by
dbSNPrs869312867
ebirs869312867
HLIrs869312867
Exacrs869312867
Varsomers869312867
Maprs869312867
PheGenIrs869312867
hapmaprs869312867
1000 genomesrs869312867
hgdprs869312867
ensemblrs869312867
gopubmedrs869312867
geneviewrs869312867
scholarrs869312867
googlers869312867
pharmgkbrs869312867
gwascentralrs869312867
openSNPrs869312867
23andMers869312867
23andMe allrs869312867
SNP Nexus

SNPshotrs869312867
SNPdbers869312867
MSV3drs869312867
GWAS Ctlgrs869312867
Max Magnitude0
ClinVar
Risk rs869312867(G;G)
Alt rs869312867(G;G)
Reference rs869312867(C;C)
Significance Probable-Pathogenic
Disease Cerebral visual impairment and intellectual disability
Variation info
Gene SOX5
CLNDBN Cerebral visual impairment and intellectual disability
Reversed 1
HGVS NC_000012.11:g.23689544G>C
CLNSRC
CLNACC RCV000210408.1,