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rs786204599

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786204599(-;-)
Make rs786204599(-;C)
Make rs786204599(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome22
Position50627390
GeneARSA
is asnp
is mentioned by
dbSNPrs786204599
ebirs786204599
HLIrs786204599
Exacrs786204599
Varsomers786204599
Maprs786204599
PheGenIrs786204599
hapmaprs786204599
1000 genomesrs786204599
hgdprs786204599
ensemblrs786204599
gopubmedrs786204599
geneviewrs786204599
scholarrs786204599
googlers786204599
pharmgkbrs786204599
gwascentralrs786204599
openSNPrs786204599
23andMers786204599
23andMe allrs786204599
SNP Nexus

SNPshotrs786204599
SNPdbers786204599
MSV3drs786204599
GWAS Ctlgrs786204599
Max Magnitude0
ClinVar
Risk rs786204599(C;C)
Alt rs786204599(C;C)
Reference rs786204599(;)
Significance Probable-Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065819dupG
CLNSRC
CLNACC RCV000169355.1,