rs141659620

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	7	Spastic paraplegia 7
(A;G)	3	Unaffected carrier of a spastic paraplegia 7 mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

16

Position

89531961

Gene

SPG7

is a	snp
is	mentioned by
dbSNP	rs141659620
dbSNP (classic)	rs141659620
ClinGen	rs141659620
ebi	rs141659620
HLI	rs141659620
Exac	rs141659620
Gnomad	rs141659620
Varsome	rs141659620
LitVar	rs141659620
Map	rs141659620
PheGenI	rs141659620
Biobank	rs141659620
1000 genomes	rs141659620
hgdp	rs141659620
ensembl	rs141659620
geneview	rs141659620
scholar	rs141659620
google	rs141659620
pharmgkb	rs141659620
gwascentral	rs141659620
openSNP	rs141659620
23andMe	rs141659620
SNPshot	rs141659620
SNPdbe	rs141659620
MSV3d	rs141659620
GWAS Ctlg	rs141659620

GMAF

0.0009183

Max Magnitude

7

aka c.1045G>A, p.Gly349Ser and G349S

Recessively inherited variant associated with spastic paraplegia type 7

ClinVar
Risk	Rs141659620(A;A) rs141659620(C;C)
Alt	Rs141659620(A;A) rs141659620(C;C)
Reference	Rs141659620(G;G)
Significance	Pathogenic
Disease	Spastic paraplegia 7 not provided Spastic Paraplegia
Variation	info
Gene	SPG7
CLNDBN	Spastic paraplegia 7 not provided Spastic Paraplegia, Recessive
Reversed	0
HGVS	NC_000016.9:g.89598369G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007221.6, RCV000198037.2, RCV000300023.1,