rs132630295

Orientation

plus

Stabilized

plus

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

Make rs132630295(C;T)

Make rs132630295(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

103786682

Gene

PLP1

is a	snp
is	mentioned by
dbSNP	rs132630295
dbSNP (classic)	rs132630295
ClinGen	rs132630295
ebi	rs132630295
HLI	rs132630295
Exac	rs132630295
Gnomad	rs132630295
Varsome	rs132630295
LitVar	rs132630295
Map	rs132630295
PheGenI	rs132630295
Biobank	rs132630295
1000 genomes	rs132630295
hgdp	rs132630295
ensembl	rs132630295
geneview	rs132630295
scholar	rs132630295
google	rs132630295
pharmgkb	rs132630295
gwascentral	rs132630295
openSNP	rs132630295
23andMe	rs132630295
SNPshot	rs132630295
SNPdbe	rs132630295
MSV3d	rs132630295
GWAS Ctlg	rs132630295

Max Magnitude

0

OMIM	300401
Desc
Variant	0026
Related	also

ClinVar
Risk	rs132630295(T;T)
Alt	rs132630295(T;T)
Reference	Rs132630295(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 2
Variation	info
Gene	PLP1
CLNDBN	Spastic paraplegia 2
Reversed	0
HGVS	NC_000023.10:g.103041611C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011847.7,