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rs786204673

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204673(-;-)
Make rs786204673(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome22
Position50627327
GeneARSA
is asnp
is mentioned by
dbSNPrs786204673
ebirs786204673
HLIrs786204673
Exacrs786204673
Varsomers786204673
Maprs786204673
PheGenIrs786204673
hapmaprs786204673
1000 genomesrs786204673
hgdprs786204673
ensemblrs786204673
gopubmedrs786204673
geneviewrs786204673
scholarrs786204673
googlers786204673
pharmgkbrs786204673
gwascentralrs786204673
openSNPrs786204673
23andMers786204673
23andMe allrs786204673
SNP Nexus

SNPshotrs786204673
SNPdbers786204673
MSV3drs786204673
GWAS Ctlgrs786204673
Max Magnitude0
ClinVar
Risk rs786204673(;)
Alt rs786204673(;)
Reference rs786204673(C;C)
Significance Probable-Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065755delG
CLNSRC
CLNACC RCV000169476.1,