rs137852519

Orientation

minus

Stabilized

minus

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

Make rs137852519(A;A)

Make rs137852519(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

153868034

Gene

L1CAM

is a	snp
is	mentioned by
dbSNP	rs137852519
dbSNP (classic)	rs137852519
ClinGen	rs137852519
ebi	rs137852519
HLI	rs137852519
Exac	rs137852519
Gnomad	rs137852519
Varsome	rs137852519
LitVar	rs137852519
Map	rs137852519
PheGenI	rs137852519
Biobank	rs137852519
1000 genomes	rs137852519
hgdp	rs137852519
ensembl	rs137852519
geneview	rs137852519
scholar	rs137852519
google	rs137852519
pharmgkb	rs137852519
gwascentral	rs137852519
openSNP	rs137852519
23andMe	rs137852519
SNPshot	rs137852519
SNPdbe	rs137852519
MSV3d	rs137852519
GWAS Ctlg	rs137852519

Max Magnitude

0

OMIM	308840
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137852519(A;A)
Alt	rs137852519(A;A)
Reference	Rs137852519(G;G)
Significance	Pathogenic
Disease	Spastic paraplegia 1
Variation	info
Gene	L1CAM
CLNDBN	Spastic paraplegia 1
Reversed	1
HGVS	NC_000023.10:g.153133489C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010670.4,