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rs119476046

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119476046(C;T)
Make rs119476046(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position50613343
GeneATL1
is asnp
is mentioned by
dbSNPrs119476046
dbSNP (classic)rs119476046
ClinGenrs119476046
ebirs119476046
HLIrs119476046
Exacrs119476046
Gnomadrs119476046
Varsomers119476046
LitVarrs119476046
Maprs119476046
PheGenIrs119476046
Biobankrs119476046
1000 genomesrs119476046
hgdprs119476046
ensemblrs119476046
geneviewrs119476046
scholarrs119476046
googlers119476046
pharmgkbrs119476046
gwascentralrs119476046
openSNPrs119476046
23andMers119476046
SNPshotrs119476046
SNPdbers119476046
MSV3drs119476046
GWAS Ctlgrs119476046
Max Magnitude0
OMIM606439
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119476046(T;T)
Alt rs119476046(T;T)
Reference Rs119476046(C;C)
Significance Pathogenic
Disease Spastic paraplegia 3 not provided
Variation info
Gene ATL1
CLNDBN Spastic paraplegia 3 not provided
Reversed 0
HGVS NC_000014.8:g.51080061C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004594.4, RCV000215830.1,