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rs786204126

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204126(C;T)
Make rs786204126(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position32136608
GeneSPAST
is asnp
is mentioned by
dbSNPrs786204126
dbSNP (classic)rs786204126
ClinGenrs786204126
ebirs786204126
HLIrs786204126
Exacrs786204126
Gnomadrs786204126
Varsomers786204126
LitVarrs786204126
Maprs786204126
PheGenIrs786204126
Biobankrs786204126
1000 genomesrs786204126
hgdprs786204126
ensemblrs786204126
geneviewrs786204126
scholarrs786204126
googlers786204126
pharmgkbrs786204126
gwascentralrs786204126
openSNPrs786204126
23andMers786204126
SNPshotrs786204126
SNPdbers786204126
MSV3drs786204126
GWAS Ctlgrs786204126
Max Magnitude0
ClinVar
Risk rs786204126(T;T)
Alt rs786204126(T;T)
Reference Rs786204126(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.32361677C>T
CLNSRC
CLNACC RCV000168087.2,