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rs6151429

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 2.1 carrier of one pseudoarylsulfatase A deficiency allele
(G;G) 3.3 pseudoarylsulfatase A deficiency (possible)
ReferenceGRCh38 38.1/141
Chromosome22
Position50625049
GeneARSA
is asnp
is mentioned by
dbSNPrs6151429
ebirs6151429
HLIrs6151429
Exacrs6151429
Varsomers6151429
Maprs6151429
PheGenIrs6151429
hapmaprs6151429
1000 genomesrs6151429
hgdprs6151429
ensemblrs6151429
gopubmedrs6151429
geneviewrs6151429
scholarrs6151429
googlers6151429
pharmgkbrs6151429
gwascentralrs6151429
openSNPrs6151429
23andMers6151429
23andMe allrs6151429
SNP Nexus

SNPshotrs6151429
SNPdbers6151429
MSV3drs6151429
GWAS Ctlgrs6151429
GMAF0.03994
Max Magnitude3.3

rs6151429, also known as c.*96A>G, is a relatively common mutation (up to 5% or so of individuals carry the G/G genotype) in the polyadenylation signal of the ARSA gene on chromosome 22. The minor allele, rs6151429(G), may lead to lower ARSA enzymatic activity, and when two copies are inherited, to pseudoarylsulfatase A deficiency. However, sufficient functional enzyme is usually present to avoid sulfatide accumulation, so this does not cause metachromatic leukodystrophy (MLD).

For more information, recommended sources include Gene Reviews and OMIM 607574.0001.

This SNP is referred to as i6007566 by 23andMe.

? (A;A) (A;G) (G;G) 28
ClinVar
Risk rs6151429(G;G)
Alt rs6151429(G;G)
Reference rs6151429(A;A)
Significance Pathogenic
Disease Arylsulfatase A pseudodeficiency Metachromatic leukodystrophy not provided
Variation info
Gene ARSA
CLNDBN Arylsulfatase A pseudodeficiency Metachromatic leukodystrophy not provided
Reversed 1
HGVS NC_000022.10:g.51063477T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003190.2, RCV000020309.1, RCV000180167.1,



[PMID 18454203OA-icon.png] Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.


[PMID 24896259OA-icon.png] Genome at Juncture of Early Human Migration: A Systematic Analysis of Two Whole Genomes and Thirteen Exomes from Kuwaiti Population Subgroup of Inferred Saudi Arabian Tribe Ancestry

GWAS snp
PMID [PMID 24816252OA-icon.png]
Trait Blood metabolite levels
Title An atlas of genetic influences on human blood metabolites.
Risk Allele T
P-val 7E-18
Odds Ratio .03 [0.023-0.035] unit decrease