rs12960

Orientation

plus

Stabilized

plus

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

Make rs12960(A;A)

Make rs12960(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

89553920

Gene

SPG7

is a	snp
is	mentioned by
dbSNP	rs12960
dbSNP (classic)	rs12960
ClinGen	rs12960
ebi	rs12960
HLI	rs12960
Exac	rs12960
Gnomad	rs12960
Varsome	rs12960
LitVar	rs12960
Map	rs12960
PheGenI	rs12960
Biobank	rs12960
1000 genomes	rs12960
hgdp	rs12960
ensembl	rs12960
geneview	rs12960
scholar	rs12960
google	rs12960
pharmgkb	rs12960
gwascentral	rs12960
openSNP	rs12960
23andMe	rs12960
SNPshot	rs12960
SNPdbe	rs12960
MSV3d	rs12960
GWAS Ctlg	rs12960

GMAF

0.118

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs12960(A;A)
Alt	rs12960(A;A)
Reference	Rs12960(G;G)
Significance	Other
Disease	not specified Spastic Paraplegia
Variation	info
Gene	RPL13 SPG7
CLNDBN	not specified Spastic Paraplegia, Recessive
Reversed	0
HGVS	NC_000016.9:g.89620328G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000118410.3, RCV000338689.1,