rs386134175

Orientation

minus

Stabilized

minus

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

Make rs386134175(-;-)

Make rs386134175(-;TA)

Reference

GRCh38 38.1/141

Chromosome

2

Position

201760986

Gene

ALS2

is a	snp
is	mentioned by
dbSNP	rs386134175
dbSNP (classic)	rs386134175
ClinGen	rs386134175
ebi	rs386134175
HLI	rs386134175
Exac	rs386134175
Gnomad	rs386134175
Varsome	rs386134175
LitVar	rs386134175
Map	rs386134175
PheGenI	rs386134175
Biobank	rs386134175
1000 genomes	rs386134175
hgdp	rs386134175
ensembl	rs386134175
geneview	rs386134175
scholar	rs386134175
google	rs386134175
pharmgkb	rs386134175
gwascentral	rs386134175
openSNP	rs386134175
23andMe	rs386134175
SNPshot	rs386134175
SNPdbe	rs386134175
MSV3d	rs386134175
GWAS Ctlg	rs386134175

Max Magnitude

0

ClinVar
Risk	rs386134175(-;-)
Alt	rs386134175(-;-)
Reference	Rs386134175(TA;TA)
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.202625709_202625710delTA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004661.5,

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