rs132630288

Orientation

plus

Stabilized

plus

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

Make rs132630288(C;C)

Make rs132630288(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

103787904

Gene

PLP1

is a	snp
is	mentioned by
dbSNP	rs132630288
dbSNP (classic)	rs132630288
ClinGen	rs132630288
ebi	rs132630288
HLI	rs132630288
Exac	rs132630288
Gnomad	rs132630288
Varsome	rs132630288
LitVar	rs132630288
Map	rs132630288
PheGenI	rs132630288
Biobank	rs132630288
1000 genomes	rs132630288
hgdp	rs132630288
ensembl	rs132630288
geneview	rs132630288
scholar	rs132630288
google	rs132630288
pharmgkb	rs132630288
gwascentral	rs132630288
openSNP	rs132630288
23andMe	rs132630288
SNPshot	rs132630288
SNPdbe	rs132630288
MSV3d	rs132630288
GWAS Ctlg	rs132630288

Max Magnitude

0

OMIM	300401
Desc
Variant	0013
Related	also

ClinVar
Risk	rs132630288(C;C)
Alt	rs132630288(C;C)
Reference	Rs132630288(T;T)
Significance	Pathogenic
Disease	Spastic paraplegia 2
Variation	info
Gene	PLP1
CLNDBN	Spastic paraplegia 2
Reversed	0
HGVS	NC_000023.10:g.103042833T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011834.10,