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rs144959805

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs144959805(C;T)
Make rs144959805(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position147659496
GeneACP6
is asnp
is mentioned by
dbSNPrs144959805
ebirs144959805
HLIrs144959805
Exacrs144959805
Varsomers144959805
Maprs144959805
PheGenIrs144959805
hapmaprs144959805
1000 genomesrs144959805
hgdprs144959805
ensemblrs144959805
gopubmedrs144959805
geneviewrs144959805
scholarrs144959805
googlers144959805
pharmgkbrs144959805
gwascentralrs144959805
openSNPrs144959805
23andMers144959805
23andMe allrs144959805
SNP Nexus

SNPshotrs144959805
SNPdbers144959805
MSV3drs144959805
GWAS Ctlgrs144959805
Max Magnitude0
ClinVar
Risk rs144959805(T;T)
Alt rs144959805(T;T)
Reference rs144959805(C;C)
Significance Probable-Pathogenic
Disease Cerebral visual impairment and intellectual disability
Variation info
Gene ACP6
CLNDBN Cerebral visual impairment and intellectual disability
Reversed 0
HGVS NC_000001.10:g.147131611C>T
CLNSRC
CLNACC RCV000210392.1,