rs132630287

Orientation

plus

Stabilized

plus

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

Make rs132630287(C;T)

Make rs132630287(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

103786691

Gene

PLP1

is a	snp
is	mentioned by
dbSNP	rs132630287
dbSNP (classic)	rs132630287
ClinGen	rs132630287
ebi	rs132630287
HLI	rs132630287
Exac	rs132630287
Gnomad	rs132630287
Varsome	rs132630287
LitVar	rs132630287
Map	rs132630287
PheGenI	rs132630287
Biobank	rs132630287
1000 genomes	rs132630287
hgdp	rs132630287
ensembl	rs132630287
geneview	rs132630287
scholar	rs132630287
google	rs132630287
pharmgkb	rs132630287
gwascentral	rs132630287
openSNP	rs132630287
23andMe	rs132630287
SNPshot	rs132630287
SNPdbe	rs132630287
MSV3d	rs132630287
GWAS Ctlg	rs132630287

Max Magnitude

0

OMIM	300401
Desc
Variant	0012
Related	also

ClinVar
Risk	rs132630287(T;T)
Alt	rs132630287(T;T)
Reference	Rs132630287(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 2
Variation	info
Gene	PLP1
CLNDBN	Spastic paraplegia 2
Reversed	0
HGVS	NC_000023.10:g.103041620C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011833.10,