rs386134177

Orientation

minus

Stabilized

minus

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

Make rs386134177(-;-)

Make rs386134177(-;TTTCCCCCAG)

Reference

GRCh38 38.1/141

Chromosome

2

Position

201754662

Gene

ALS2

is a	snp
is	mentioned by
dbSNP	rs386134177
dbSNP (classic)	rs386134177
ClinGen	rs386134177
ebi	rs386134177
HLI	rs386134177
Exac	rs386134177
Gnomad	rs386134177
Varsome	rs386134177
LitVar	rs386134177
Map	rs386134177
PheGenI	rs386134177
Biobank	rs386134177
1000 genomes	rs386134177
hgdp	rs386134177
ensembl	rs386134177
geneview	rs386134177
scholar	rs386134177
google	rs386134177
pharmgkb	rs386134177
gwascentral	rs386134177
openSNP	rs386134177
23andMe	rs386134177
SNPshot	rs386134177
SNPdbe	rs386134177
MSV3d	rs386134177
GWAS Ctlg	rs386134177

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs386134177(TTTCCCCCAG;TTTCCCCCAG)
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.202619385_202619394delCTGGGGGAAA
CLNSRC	GeneReviews OMIM Allelic Variant
CLNACC	RCV000004659.2,

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