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rs119476050

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119476050(C;T)
Make rs119476050(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position50628154
GeneATL1
is asnp
is mentioned by
dbSNPrs119476050
dbSNP (classic)rs119476050
ClinGenrs119476050
ebirs119476050
HLIrs119476050
Exacrs119476050
Gnomadrs119476050
Varsomers119476050
LitVarrs119476050
Maprs119476050
PheGenIrs119476050
Biobankrs119476050
1000 genomesrs119476050
hgdprs119476050
ensemblrs119476050
geneviewrs119476050
scholarrs119476050
googlers119476050
pharmgkbrs119476050
gwascentralrs119476050
openSNPrs119476050
23andMers119476050
SNPshotrs119476050
SNPdbers119476050
MSV3drs119476050
GWAS Ctlgrs119476050
Max Magnitude0
OMIM606439
Desc
Variant0007
Relatedalso
ClinVar
Risk rs119476050(T;T)
Alt rs119476050(T;T)
Reference Rs119476050(C;C)
Significance Pathogenic
Disease Spastic paraplegia 3 Inborn genetic diseases
Variation info
Gene ATL1
CLNDBN Spastic paraplegia 3 Inborn genetic diseases
Reversed 0
HGVS NC_000014.8:g.51094872C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004600.5, RCV000190652.1,