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rs144045461

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs144045461(C;T)
Make rs144045461(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position33283287
GeneLARGE, LARGE1
is asnp
is mentioned by
dbSNPrs144045461
dbSNP (classic)rs144045461
ClinGenrs144045461
ebirs144045461
HLIrs144045461
Exacrs144045461
Gnomadrs144045461
Varsomers144045461
LitVarrs144045461
Maprs144045461
PheGenIrs144045461
Biobankrs144045461
1000 genomesrs144045461
hgdprs144045461
ensemblrs144045461
geneviewrs144045461
scholarrs144045461
googlers144045461
pharmgkbrs144045461
gwascentralrs144045461
openSNPrs144045461
23andMers144045461
SNPshotrs144045461
SNPdbers144045461
MSV3drs144045461
GWAS Ctlgrs144045461
Max Magnitude0
ClinVar
Risk rs144045461(T;T)
Alt rs144045461(T;T)
Reference Rs144045461(C;C)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene LARGE1 LARGE
CLNDBN not provided
Reversed 0
HGVS NC_000022.10:g.33679273C>T
CLNSRC
CLNACC RCV000171355.1,