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rs1060499756

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499756(G;T)
Make rs1060499756(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position113897860
GeneAP4B1, AP4B1-AS1
is asnp
is mentioned by
dbSNPrs1060499756
dbSNP (classic)rs1060499756
ClinGenrs1060499756
ebirs1060499756
HLIrs1060499756
Exacrs1060499756
Gnomadrs1060499756
Varsomers1060499756
LitVarrs1060499756
Maprs1060499756
PheGenIrs1060499756
Biobankrs1060499756
1000 genomesrs1060499756
hgdprs1060499756
ensemblrs1060499756
geneviewrs1060499756
scholarrs1060499756
googlers1060499756
pharmgkbrs1060499756
gwascentralrs1060499756
openSNPrs1060499756
23andMers1060499756
SNPshotrs1060499756
SNPdbers1060499756
MSV3drs1060499756
GWAS Ctlgrs1060499756
Max Magnitude0
ClinVar
Risk rs1060499756(T;T)
Alt rs1060499756(T;T)
Reference Rs1060499756(G;G)
Significance Probable-Pathogenic
Disease Abnormality of brain morphology
Variation info
Gene AP4B1 AP4B1-AS1
CLNDBN Abnormality of brain morphology
Reversed 1
HGVS NC_000001.10:g.114440482C>A
CLNSRC
CLNACC RCV000454302.1,