rs28933683

Orientation

minus

Stabilized

minus

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

Make rs28933683(A;A)

Make rs28933683(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

153870854

Gene

L1CAM

is a	snp
is	mentioned by
dbSNP	rs28933683
dbSNP (classic)	rs28933683
ClinGen	rs28933683
ebi	rs28933683
HLI	rs28933683
Exac	rs28933683
Gnomad	rs28933683
Varsome	rs28933683
LitVar	rs28933683
Map	rs28933683
PheGenI	rs28933683
Biobank	rs28933683
1000 genomes	rs28933683
hgdp	rs28933683
ensembl	rs28933683
geneview	rs28933683
scholar	rs28933683
google	rs28933683
pharmgkb	rs28933683
gwascentral	rs28933683
openSNP	rs28933683
23andMe	rs28933683
SNPshot	rs28933683
SNPdbe	rs28933683
MSV3d	rs28933683
GWAS Ctlg	rs28933683

Max Magnitude

0

OMIM	308840
Desc	MASA SYNDROME
Variant	0004
Related	also

ClinVar
Risk	rs28933683(A;A) Rs28933683(G;G) rs28933683(T;T)
Alt	rs28933683(A;A) Rs28933683(G;G) rs28933683(T;T)
Reference	Rs28933683(C;C)
Significance	Pathogenic
Disease	not specified Spastic paraplegia 1
Variation	info
Gene	L1CAM
CLNDBN	not specified Spastic paraplegia 1
Reversed	1
HGVS	NC_000023.10:g.153136309G>A; NC_000023.10:g.153136309G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000078741.4, RCV000010669.3,