rs141848292

Orientation

plus

Stabilized

plus

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

Make rs141848292(A;A)

Make rs141848292(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44584057

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs141848292
dbSNP (classic)	rs141848292
ClinGen	rs141848292
ebi	rs141848292
HLI	rs141848292
Exac	rs141848292
Gnomad	rs141848292
Varsome	rs141848292
LitVar	rs141848292
Map	rs141848292
PheGenI	rs141848292
Biobank	rs141848292
1000 genomes	rs141848292
hgdp	rs141848292
ensembl	rs141848292
geneview	rs141848292
scholar	rs141848292
google	rs141848292
pharmgkb	rs141848292
gwascentral	rs141848292
openSNP	rs141848292
23andMe	rs141848292
SNPshot	rs141848292
SNPdbe	rs141848292
MSV3d	rs141848292
GWAS Ctlg	rs141848292

Max Magnitude

0

ClinVar
Risk	rs141848292(A;A)
Alt	rs141848292(A;A)
Reference	Rs141848292(G;G)
Significance	Pathogenic
Disease	Spastic paraplegia 11 not provided
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive not provided
Reversed	0
HGVS	NC_000015.9:g.44876255G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001175.5, RCV000413953.1,

[PMID 18717728] Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).