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rs869312862

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312862(C;C)
Make rs869312862(C;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position112791832
GeneAMOT
is asnp
is mentioned by
dbSNPrs869312862
ebirs869312862
HLIrs869312862
Exacrs869312862
Varsomers869312862
Maprs869312862
PheGenIrs869312862
hapmaprs869312862
1000 genomesrs869312862
hgdprs869312862
ensemblrs869312862
gopubmedrs869312862
geneviewrs869312862
scholarrs869312862
googlers869312862
pharmgkbrs869312862
gwascentralrs869312862
openSNPrs869312862
23andMers869312862
23andMe allrs869312862
SNP Nexus

SNPshotrs869312862
SNPdbers869312862
MSV3drs869312862
GWAS Ctlgrs869312862
Max Magnitude0
ClinVar
Risk rs869312862(C;C)
Alt rs869312862(C;C)
Reference rs869312862(G;G)
Significance Probable-Pathogenic
Disease Cerebral visual impairment and intellectual disability
Variation info
Gene AMOT
CLNDBN Cerebral visual impairment and intellectual disability
Reversed 1
HGVS NC_000023.10:g.112035060C>G
CLNSRC
CLNACC RCV000210410.1,