rs66468541

Orientation

minus

Stabilized

minus

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

Make rs66468541(A;A)

Make rs66468541(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

197497275

Gene

HSPD1

is a	snp
is	mentioned by
dbSNP	rs66468541
dbSNP (classic)	rs66468541
ClinGen	rs66468541
ebi	rs66468541
HLI	rs66468541
Exac	rs66468541
Gnomad	rs66468541
Varsome	rs66468541
LitVar	rs66468541
Map	rs66468541
PheGenI	rs66468541
Biobank	rs66468541
1000 genomes	rs66468541
hgdp	rs66468541
ensembl	rs66468541
geneview	rs66468541
scholar	rs66468541
google	rs66468541
pharmgkb	rs66468541
gwascentral	rs66468541
openSNP	rs66468541
23andMe	rs66468541
SNPshot	rs66468541
SNPdbe	rs66468541
MSV3d	rs66468541
GWAS Ctlg	rs66468541

Max Magnitude

0

OMIM	118190
Desc
Variant	0001
Related	also

ClinVar
Risk	rs66468541(A;A)
Alt	rs66468541(A;A)
Reference	Rs66468541(G;G)
Significance	Pathogenic
Disease	Spastic paraplegia 13
Variation	info
Gene	HSPD1
CLNDBN	Spastic paraplegia 13
Reversed	1
HGVS	NC_000002.11:g.198361999C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019112.28,