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rs743616

From SNPedia

Lysosomal Storage Disease May be neurodegenerative. May have low or reference range levels of arylsulfatase A in the serum, but sulfatide is not stored. Possible Multiple sulfatase deficiency
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs743616(C;C)
Make rs743616(C;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50625611
GeneARSA
is asnp
is mentioned by
dbSNPrs743616
dbSNP (classic)rs743616
ClinGenrs743616
ebirs743616
HLIrs743616
Exacrs743616
Gnomadrs743616
Varsomers743616
LitVarrs743616
Maprs743616
PheGenIrs743616
Biobankrs743616
1000 genomesrs743616
hgdprs743616
ensemblrs743616
geneviewrs743616
scholarrs743616
googlers743616
pharmgkbrs743616
gwascentralrs743616
openSNPrs743616
23andMers743616
23andMe allrs743616
SNPshotrs743616
SNPdbers743616
MSV3drs743616
GWAS Ctlgrs743616
GMAF0.4261
Max Magnitude0
? (C;C) (C;G) (G;G) 28



OMIM250100
Desc
Variant
Relatedalso


ClinVar
Risk rs743616(C;C)
Alt rs743616(C;C)
Reference Rs743616(G;G)
Significance Non-pathogenic
Disease Metachromatic leukodystrophy not specified
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy not specified
Reversed 0
HGVS NC_000022.10:g.51064039G>C
CLNSRC HGMD
CLNACC RCV000020311.2, RCV000078937.5,



[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.