rs132630294

Orientation

plus

Stabilized

plus

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

Make rs132630294(C;T)

Make rs132630294(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

103787853

Gene

PLP1

is a	snp
is	mentioned by
dbSNP	rs132630294
dbSNP (classic)	rs132630294
ClinGen	rs132630294
ebi	rs132630294
HLI	rs132630294
Exac	rs132630294
Gnomad	rs132630294
Varsome	rs132630294
LitVar	rs132630294
Map	rs132630294
PheGenI	rs132630294
Biobank	rs132630294
1000 genomes	rs132630294
hgdp	rs132630294
ensembl	rs132630294
geneview	rs132630294
scholar	rs132630294
google	rs132630294
pharmgkb	rs132630294
gwascentral	rs132630294
openSNP	rs132630294
23andMe	rs132630294
SNPshot	rs132630294
SNPdbe	rs132630294
MSV3d	rs132630294
GWAS Ctlg	rs132630294

Max Magnitude

0

OMIM	300401
Desc
Variant	0020
Related	also

ClinVar
Risk	rs132630294(T;T)
Alt	rs132630294(T;T)
Reference	Rs132630294(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 2
Variation	info
Gene	PLP1
CLNDBN	Spastic paraplegia 2
Reversed	0
HGVS	NC_000023.10:g.103042782C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011841.10,