rs386134179

Orientation

minus

Stabilized

minus

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

Make rs386134179(-;CAGTG)

Make rs386134179(CAGTG;CAGTG)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

201746738

Gene

ALS2

is a	snp
is	mentioned by
dbSNP	rs386134179
dbSNP (classic)	rs386134179
ClinGen	rs386134179
ebi	rs386134179
HLI	rs386134179
Exac	rs386134179
Gnomad	rs386134179
Varsome	rs386134179
LitVar	rs386134179
Map	rs386134179
PheGenI	rs386134179
Biobank	rs386134179
1000 genomes	rs386134179
hgdp	rs386134179
ensembl	rs386134179
geneview	rs386134179
scholar	rs386134179
google	rs386134179
pharmgkb	rs386134179
gwascentral	rs386134179
openSNP	rs386134179
23andMe	rs386134179
SNPshot	rs386134179
SNPdbe	rs386134179
MSV3d	rs386134179
GWAS Ctlg	rs386134179

Max Magnitude

0

ClinVar
Risk	rs386134179(CAGTG;CAGTG)
Alt	rs386134179(CAGTG;CAGTG)
Reference	Rs386134179(-;-)
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.202611462_202611466dupCACTG
CLNSRC
CLNACC	RCV000034965.2,