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rs757130394

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs757130394(A;A)
Make rs757130394(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position32137112
GeneSPAST
is asnp
is mentioned by
dbSNPrs757130394
ebirs757130394
HLIrs757130394
Exacrs757130394
Varsomers757130394
Maprs757130394
PheGenIrs757130394
hapmaprs757130394
1000 genomesrs757130394
hgdprs757130394
ensemblrs757130394
gopubmedrs757130394
geneviewrs757130394
scholarrs757130394
googlers757130394
pharmgkbrs757130394
gwascentralrs757130394
openSNPrs757130394
23andMers757130394
23andMe allrs757130394
SNP Nexus

SNPshotrs757130394
SNPdbers757130394
MSV3drs757130394
GWAS Ctlgrs757130394
Max Magnitude0
ClinVar
Risk rs757130394(A;A)
Alt rs757130394(A;A)
Reference rs757130394(C;C)
Significance Pathogenic
Disease Spastic paraplegia 4
Variation info
Gene SPAST
CLNDBN Spastic paraplegia 4, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.32362181C>T
CLNSRC
CLNACC RCV000197545.1,