rs28940894

Orientation

minus

Stabilized

minus

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

Make rs28940894(A;C)

Make rs28940894(C;C)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50626271

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs28940894
dbSNP (classic)	rs28940894
ClinGen	rs28940894
ebi	rs28940894
HLI	rs28940894
Exac	rs28940894
Gnomad	rs28940894
Varsome	rs28940894
LitVar	rs28940894
Map	rs28940894
PheGenI	rs28940894
Biobank	rs28940894
1000 genomes	rs28940894
hgdp	rs28940894
ensembl	rs28940894
geneview	rs28940894
scholar	rs28940894
google	rs28940894
pharmgkb	rs28940894
gwascentral	rs28940894
openSNP	rs28940894
23andMe	rs28940894
SNPshot	rs28940894
SNPdbe	rs28940894
MSV3d	rs28940894
GWAS Ctlg	rs28940894

Max Magnitude

0

OMIM	607574
Desc	METACHROMATIC LEUKODYSTROPHY, ADULT
Variant	0043
Related	also

ClinVar
Risk	rs28940894(C;C)
Alt	rs28940894(C;C)
Reference	Rs28940894(A;A)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy, adult type
Reversed	1
HGVS	NC_000022.10:g.51064699T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003236.3,