rs386134184

Orientation

minus

Stabilized

minus

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

Make rs386134184(A;G)

Make rs386134184(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

201726868

Gene

ALS2

is a	snp
is	mentioned by
dbSNP	rs386134184
dbSNP (classic)	rs386134184
ClinGen	rs386134184
ebi	rs386134184
HLI	rs386134184
Exac	rs386134184
Gnomad	rs386134184
Varsome	rs386134184
LitVar	rs386134184
Map	rs386134184
PheGenI	rs386134184
Biobank	rs386134184
1000 genomes	rs386134184
hgdp	rs386134184
ensembl	rs386134184
geneview	rs386134184
scholar	rs386134184
google	rs386134184
pharmgkb	rs386134184
gwascentral	rs386134184
openSNP	rs386134184
23andMe	rs386134184
SNPshot	rs386134184
SNPdbe	rs386134184
MSV3d	rs386134184
GWAS Ctlg	rs386134184

Max Magnitude

0

ClinVar
Risk	rs386134184(G;G)
Alt	rs386134184(G;G)
Reference	Rs386134184(A;A)
Significance	Pathogenic
Disease	Juvenile primary lateral sclerosis
Variation	info
Gene	ALS2
CLNDBN	Juvenile primary lateral sclerosis
Reversed	1
HGVS	NC_000002.11:g.202591591T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004666.5,

[PMID 19122027] A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family.