Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338819

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338819(C;C)
Make rs80338819(C;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626676
GeneARSA
is asnp
is mentioned by
dbSNPrs80338819
ebirs80338819
HLIrs80338819
Exacrs80338819
Varsomers80338819
Maprs80338819
PheGenIrs80338819
hapmaprs80338819
1000 genomesrs80338819
hgdprs80338819
ensemblrs80338819
gopubmedrs80338819
geneviewrs80338819
scholarrs80338819
googlers80338819
pharmgkbrs80338819
gwascentralrs80338819
openSNPrs80338819
23andMers80338819
23andMe allrs80338819
SNP Nexus

SNPshotrs80338819
SNPdbers80338819
MSV3drs80338819
GWAS Ctlgrs80338819
Max Magnitude0
ClinVar
Risk rs80338819(A,C;A,C)
Alt rs80338819(A,C;A,C)
Reference rs80338819(G;G)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065104C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020322.1,


[PMID 15720392] Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum.