rs121908513

Orientation

plus

Stabilized

plus

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

Make rs121908513(A;A)

Make rs121908513(A;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

32116145

Gene

SPAST

is a	snp
is	mentioned by
dbSNP	rs121908513
dbSNP (classic)	rs121908513
ClinGen	rs121908513
ebi	rs121908513
HLI	rs121908513
Exac	rs121908513
Gnomad	rs121908513
Varsome	rs121908513
LitVar	rs121908513
Map	rs121908513
PheGenI	rs121908513
Biobank	rs121908513
1000 genomes	rs121908513
hgdp	rs121908513
ensembl	rs121908513
geneview	rs121908513
scholar	rs121908513
google	rs121908513
pharmgkb	rs121908513
gwascentral	rs121908513
openSNP	rs121908513
23andMe	rs121908513
SNPshot	rs121908513
SNPdbe	rs121908513
MSV3d	rs121908513
GWAS Ctlg	rs121908513

Max Magnitude

0

OMIM	604277
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121908513(A;A)
Alt	rs121908513(A;A)
Reference	Rs121908513(T;T)
Significance	Pathogenic
Disease	Spastic paraplegia 4
Variation	info
Gene	SPAST
CLNDBN	Spastic paraplegia 4, autosomal dominant
Reversed	0
HGVS	NC_000002.11:g.32341214T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006022.2,