Rs119476048

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Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119476048(A;G)
Make rs119476048(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position50614422
GeneATL1
is asnp
is mentioned by
dbSNPrs119476048
Exacrs119476048
PheGenIrs119476048
nextbiors119476048
hapmaprs119476048
1000 genomesrs119476048
hgdprs119476048
ensemblrs119476048
gopubmedrs119476048
geneviewrs119476048
scholarrs119476048
googlers119476048
pharmgkbrs119476048
gwascentralrs119476048
openSNPrs119476048
23andMers119476048
23andMe allrs119476048
SNP Nexus

SNPshotrs119476048
SNPdbers119476048
MSV3drs119476048
OMIM606439
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119476048(G;G)
Alt rs119476048(G;G)
Reference rs119476048(A;A)
Significance Pathogenic
Disease Spastic paraplegia 3
Variation info
Gene ATL1
CLNDBN Spastic paraplegia 3
Reversed 0
HGVS NC_000014.8:g.51081140A>G
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000004596.2,