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rs573642949

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs573642949(G;T)
Make rs573642949(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position32063958
GeneSPAST
is asnp
is mentioned by
dbSNPrs573642949
dbSNP (classic)rs573642949
ClinGenrs573642949
ebirs573642949
HLIrs573642949
Exacrs573642949
Gnomadrs573642949
Varsomers573642949
LitVarrs573642949
Maprs573642949
PheGenIrs573642949
Biobankrs573642949
1000 genomesrs573642949
hgdprs573642949
ensemblrs573642949
geneviewrs573642949
scholarrs573642949
googlers573642949
pharmgkbrs573642949
gwascentralrs573642949
openSNPrs573642949
23andMers573642949
23andMe allrs573642949
SNPshotrs573642949
SNPdbers573642949
MSV3drs573642949
GWAS Ctlgrs573642949
Max Magnitude0
ClinVar
Risk rs573642949(C;C) rs573642949(T;T)
Alt rs573642949(C;C) rs573642949(T;T)
Reference Rs573642949(G;G)
Significance Pathogenic
Disease Spastic paraplegia 4
Variation info
Gene SPAST
CLNDBN Spastic paraplegia 4, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.32289027G>T
CLNSRC
CLNACC RCV000461473.1,