rs386134182

minus

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

Make rs386134182(A;T)

Make rs386134182(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

201744431

Gene

ALS2

is a	snp
is	mentioned by
dbSNP	rs386134182
dbSNP (classic)	rs386134182
ClinGen	rs386134182
ebi	rs386134182
HLI	rs386134182
Exac	rs386134182
Gnomad	rs386134182
Varsome	rs386134182
LitVar	rs386134182
Map	rs386134182
PheGenI	rs386134182
Biobank	rs386134182
1000 genomes	rs386134182
hgdp	rs386134182
ensembl	rs386134182
geneview	rs386134182
scholar	rs386134182
google	rs386134182
pharmgkb	rs386134182
gwascentral	rs386134182
openSNP	rs386134182
23andMe	rs386134182
SNPshot	rs386134182
SNPdbe	rs386134182
MSV3d	rs386134182
GWAS Ctlg	rs386134182

Max Magnitude

0

ClinVar
Risk	rs386134182(T;T)
Alt	rs386134182(T;T)
Reference	Rs386134182(A;A)
Significance	Pathogenic
Disease	Infantile-onset ascending hereditary spastic paralysis
Variation	info
Gene	ALS2
CLNDBN	Infantile-onset ascending hereditary spastic paralysis
Reversed	1
HGVS	NC_000002.11:g.202609154T>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034887.1,

[PMID 18810511] Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).