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rs774153480

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs774153480(-;-)
Make rs774153480(-;G)
Make rs774153480(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position50625182
GeneARSA
is asnp
is mentioned by
dbSNPrs774153480
ebirs774153480
HLIrs774153480
Exacrs774153480
Varsomers774153480
Maprs774153480
PheGenIrs774153480
hapmaprs774153480
1000 genomesrs774153480
hgdprs774153480
ensemblrs774153480
gopubmedrs774153480
geneviewrs774153480
scholarrs774153480
googlers774153480
pharmgkbrs774153480
gwascentralrs774153480
openSNPrs774153480
23andMers774153480
23andMe allrs774153480
SNP Nexus

SNPshotrs774153480
SNPdbers774153480
MSV3drs774153480
GWAS Ctlgrs774153480
Max Magnitude0
ClinVar
Risk rs774153480(CG,CGGGG;CG,CGGGG)
Alt rs774153480(CG,CGGGG;CG,CGGGG)
Reference rs774153480(C;C)
Significance Probable-Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 0
HGVS NC_000022.10:g.51063611_51063614dupGGGG
CLNSRC
CLNACC RCV000169193.1,