rs80338823

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(CGCAGCTGTGA;CGCAGCTGTGA)	0	common in clinvar
(GCAGCTGTGAC;GCAGCTGTGAC)	0	common in clinvar

Make rs80338823(-;-)

Make rs80338823(-;CGCAGCTGTGA)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50625258

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs80338823
dbSNP (classic)	rs80338823
ClinGen	rs80338823
ebi	rs80338823
HLI	rs80338823
Exac	rs80338823
Gnomad	rs80338823
Varsome	rs80338823
LitVar	rs80338823
Map	rs80338823
PheGenI	rs80338823
Biobank	rs80338823
1000 genomes	rs80338823
hgdp	rs80338823
ensembl	rs80338823
geneview	rs80338823
scholar	rs80338823
google	rs80338823
pharmgkb	rs80338823
gwascentral	rs80338823
openSNP	rs80338823
23andMe	rs80338823
SNPshot	rs80338823
SNPdbe	rs80338823
MSV3d	rs80338823
GWAS Ctlg	rs80338823

Merged from

Rs794727904

Max Magnitude

0

ClinVar
Risk	Rs80338823(GCAGCTGTGAC;GCAGCTGTGAC) rs80338823(-;-)
Alt	Rs80338823(GCAGCTGTGAC;GCAGCTGTGAC) rs80338823(-;-)
Reference	Rs80338823(CGCAGCTGTGA;CGCAGCTGTGA)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51063685_51063695delGTCACAGCTGC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000180166.2,