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rs869312870

From SNPedia

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Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312870(A;G)
Make rs869312870(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position113789792
GeneATP6V1A
is asnp
is mentioned by
dbSNPrs869312870
ebirs869312870
HLIrs869312870
Exacrs869312870
Varsomers869312870
Maprs869312870
PheGenIrs869312870
hapmaprs869312870
1000 genomesrs869312870
hgdprs869312870
ensemblrs869312870
gopubmedrs869312870
geneviewrs869312870
scholarrs869312870
googlers869312870
pharmgkbrs869312870
gwascentralrs869312870
openSNPrs869312870
23andMers869312870
23andMe allrs869312870
SNP Nexus

SNPshotrs869312870
SNPdbers869312870
MSV3drs869312870
GWAS Ctlgrs869312870
Max Magnitude0
ClinVar
Risk rs869312870(G;G)
Alt rs869312870(G;G)
Reference rs869312870(A;A)
Significance Probable-Pathogenic
Disease Cerebral visual impairment and intellectual disability
Variation info
Gene ATP6V1A
CLNDBN Cerebral visual impairment and intellectual disability
Reversed 0
HGVS NC_000003.11:g.113508639A>G
CLNSRC
CLNACC RCV000210381.1,