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rs119476051

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119476051(G;G)
Make rs119476051(G;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position50591587
GeneATL1
is asnp
is mentioned by
dbSNPrs119476051
dbSNP (classic)rs119476051
ClinGenrs119476051
ebirs119476051
HLIrs119476051
Exacrs119476051
Gnomadrs119476051
Varsomers119476051
LitVarrs119476051
Maprs119476051
PheGenIrs119476051
Biobankrs119476051
1000 genomesrs119476051
hgdprs119476051
ensemblrs119476051
geneviewrs119476051
scholarrs119476051
googlers119476051
pharmgkbrs119476051
gwascentralrs119476051
openSNPrs119476051
23andMers119476051
SNPshotrs119476051
SNPdbers119476051
MSV3drs119476051
GWAS Ctlgrs119476051
Max Magnitude0
OMIM606439
Desc
Variant0008
Relatedalso
ClinVar
Risk rs119476051(G;G)
Alt rs119476051(G;G)
Reference Rs119476051(T;T)
Significance Pathogenic
Disease Spastic paraplegia 3
Variation info
Gene ATL1
CLNDBN Spastic paraplegia 3
Reversed 0
HGVS NC_000014.8:g.51058305T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004601.5,