rs386134183

Orientation

minus

Stabilized

minus

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

Make rs386134183(-;-)

Make rs386134183(-;AT)

Reference

GRCh38 38.1/141

Chromosome

2

Position

201733318

Gene

ALS2

is a	snp
is	mentioned by
dbSNP	rs386134183
dbSNP (classic)	rs386134183
ClinGen	rs386134183
ebi	rs386134183
HLI	rs386134183
Exac	rs386134183
Gnomad	rs386134183
Varsome	rs386134183
LitVar	rs386134183
Map	rs386134183
PheGenI	rs386134183
Biobank	rs386134183
1000 genomes	rs386134183
hgdp	rs386134183
ensembl	rs386134183
geneview	rs386134183
scholar	rs386134183
google	rs386134183
pharmgkb	rs386134183
gwascentral	rs386134183
openSNP	rs386134183
23andMe	rs386134183
SNPshot	rs386134183
SNPdbe	rs386134183
MSV3d	rs386134183
GWAS Ctlg	rs386134183

Max Magnitude

0

ClinVar
Risk	rs386134183(-;-)
Alt	rs386134183(-;-)
Reference	Rs386134183(AT;AT)
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.202598041_202598042delAT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004660.5,

[PMID 12145748] Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.