rs386134178

Orientation

minus

Stabilized

minus

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

Make rs386134178(A;A)

Make rs386134178(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

201754524

Gene

ALS2

is a	snp
is	mentioned by
dbSNP	rs386134178
dbSNP (classic)	rs386134178
ClinGen	rs386134178
ebi	rs386134178
HLI	rs386134178
Exac	rs386134178
Gnomad	rs386134178
Varsome	rs386134178
LitVar	rs386134178
Map	rs386134178
PheGenI	rs386134178
Biobank	rs386134178
1000 genomes	rs386134178
hgdp	rs386134178
ensembl	rs386134178
geneview	rs386134178
scholar	rs386134178
google	rs386134178
pharmgkb	rs386134178
gwascentral	rs386134178
openSNP	rs386134178
23andMe	rs386134178
SNPshot	rs386134178
SNPdbe	rs386134178
MSV3d	rs386134178
GWAS Ctlg	rs386134178

Max Magnitude

0

ClinVar
Risk	rs386134178(A;A)
Alt	rs386134178(A;A)
Reference	Rs386134178(G;G)
Significance	Pathogenic
Disease	Juvenile primary lateral sclerosis
Variation	info
Gene	ALS2
CLNDBN	Juvenile primary lateral sclerosis
Reversed	1
HGVS	NC_000002.11:g.202619247C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034964.1,

[PMID 16670179] The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function.