Rs119476047

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119476047(A;A)
Make rs119476047(A;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position50614425
GeneATL1
is asnp
is mentioned by
dbSNPrs119476047
Exacrs119476047
PheGenIrs119476047
nextbiors119476047
hapmaprs119476047
1000 genomesrs119476047
hgdprs119476047
ensemblrs119476047
gopubmedrs119476047
geneviewrs119476047
scholarrs119476047
googlers119476047
pharmgkbrs119476047
gwascentralrs119476047
openSNPrs119476047
23andMers119476047
23andMe allrs119476047
SNP Nexus

SNPshotrs119476047
SNPdbers119476047
MSV3drs119476047
Max Magnitude0
OMIM606439
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119476047(A;A)
Alt rs119476047(A;A)
Reference rs119476047(C;C)
Significance Pathogenic
Disease Spastic paraplegia 3
Variation info
Gene ATL1
CLNDBN Spastic paraplegia 3
Reversed 0
HGVS NC_000014.8:g.51081143C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004595.1,