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rs1057517044

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517044(A;G)
Make rs1057517044(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50627054
GeneARSA
is asnp
is mentioned by
dbSNPrs1057517044
dbSNP (old)rs1057517044
ClinGenrs1057517044
ebirs1057517044
HLIrs1057517044
Exacrs1057517044
Gnomadrs1057517044
Varsomers1057517044
Maprs1057517044
PheGenIrs1057517044
Biobankrs1057517044
1000 genomesrs1057517044
hgdprs1057517044
ensemblrs1057517044
gopubmedrs1057517044
geneviewrs1057517044
scholarrs1057517044
googlers1057517044
pharmgkbrs1057517044
gwascentralrs1057517044
openSNPrs1057517044
23andMers1057517044
23andMe allrs1057517044
SNPshotrs1057517044
SNPdbers1057517044
MSV3drs1057517044
GWAS Ctlgrs1057517044
Max Magnitude0
ClinVar
Risk rs1057517044(G;G)
Alt rs1057517044(G;G)
Reference Rs1057517044(A;A)
Significance Probable-Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065482T>C
CLNSRC
CLNACC RCV000409478.1,