Have questions? Visit https://www.reddit.com/r/SNPedia

rs387906941

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906941(C;T)
Make rs387906941(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position50628157
GeneATL1
is asnp
is mentioned by
dbSNPrs387906941
dbSNP (classic)rs387906941
ClinGenrs387906941
ebirs387906941
HLIrs387906941
Exacrs387906941
Gnomadrs387906941
Varsomers387906941
LitVarrs387906941
Maprs387906941
PheGenIrs387906941
Biobankrs387906941
1000 genomesrs387906941
hgdprs387906941
ensemblrs387906941
geneviewrs387906941
scholarrs387906941
googlers387906941
pharmgkbrs387906941
gwascentralrs387906941
openSNPrs387906941
23andMers387906941
SNPshotrs387906941
SNPdbers387906941
MSV3drs387906941
GWAS Ctlgrs387906941
Max Magnitude0
ClinVar
Risk rs387906941(T;T)
Alt rs387906941(T;T)
Reference Rs387906941(C;C)
Significance Pathogenic
Disease Spastic paraplegia 3
Variation info
Gene ATL1
CLNDBN Spastic paraplegia 3
Reversed 0
HGVS NC_000014.8:g.51094875C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023545.3,