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rs797044850

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797044850(A;G)
Make rs797044850(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position32127017
GeneSPAST
is asnp
is mentioned by
dbSNPrs797044850
dbSNP (classic)rs797044850
ClinGenrs797044850
ebirs797044850
HLIrs797044850
Exacrs797044850
Gnomadrs797044850
Varsomers797044850
LitVarrs797044850
Maprs797044850
PheGenIrs797044850
Biobankrs797044850
1000 genomesrs797044850
hgdprs797044850
ensemblrs797044850
geneviewrs797044850
scholarrs797044850
googlers797044850
pharmgkbrs797044850
gwascentralrs797044850
openSNPrs797044850
23andMers797044850
SNPshotrs797044850
SNPdbers797044850
MSV3drs797044850
GWAS Ctlgrs797044850
Max Magnitude0
ClinVar
Risk rs797044850(G;G)
Alt rs797044850(G;G)
Reference Rs797044850(A;A)
Significance Pathogenic
Disease Inborn genetic diseases Spastic paraplegia 4 not provided
Variation info
Gene SPAST
CLNDBN Inborn genetic diseases Spastic paraplegia 4, autosomal dominant not provided
Reversed 0
HGVS NC_000002.11:g.32352086A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000190649.1, RCV000206286.1, RCV000478313.1,