rs121908511

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121908511(C;T)

Make rs121908511(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

32141905

Gene

SPAST

is a	snp
is	mentioned by
dbSNP	rs121908511
dbSNP (classic)	rs121908511
ClinGen	rs121908511
ebi	rs121908511
HLI	rs121908511
Exac	rs121908511
Gnomad	rs121908511
Varsome	rs121908511
LitVar	rs121908511
Map	rs121908511
PheGenI	rs121908511
Biobank	rs121908511
1000 genomes	rs121908511
hgdp	rs121908511
ensembl	rs121908511
geneview	rs121908511
scholar	rs121908511
google	rs121908511
pharmgkb	rs121908511
gwascentral	rs121908511
openSNP	rs121908511
23andMe	rs121908511
SNPshot	rs121908511
SNPdbe	rs121908511
MSV3d	rs121908511
GWAS Ctlg	rs121908511

Max Magnitude

0

OMIM	604277
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121908511(T;T)
Alt	rs121908511(T;T)
Reference	Rs121908511(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 4 Spastic paraparesis
Variation	info
Gene	SPAST
CLNDBN	Spastic paraplegia 4, autosomal dominant Spastic paraparesis
Reversed	0
HGVS	NC_000002.11:g.32366974C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006014.2, RCV000415256.1,