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rs1057516887

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(GGTC;GGTC) 0 common in clinvar
Make rs1057516887(-;-)
Make rs1057516887(-;GGTC)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50626151
GeneARSA
is asnp
is mentioned by
dbSNPrs1057516887
dbSNP (old)rs1057516887
ClinGenrs1057516887
ebirs1057516887
HLIrs1057516887
Exacrs1057516887
Gnomadrs1057516887
Varsomers1057516887
Maprs1057516887
PheGenIrs1057516887
Biobankrs1057516887
1000 genomesrs1057516887
hgdprs1057516887
ensemblrs1057516887
gopubmedrs1057516887
geneviewrs1057516887
scholarrs1057516887
googlers1057516887
pharmgkbrs1057516887
gwascentralrs1057516887
openSNPrs1057516887
23andMers1057516887
23andMe allrs1057516887
SNPshotrs1057516887
SNPdbers1057516887
MSV3drs1057516887
GWAS Ctlgrs1057516887
Max Magnitude0
ClinVar
Risk rs1057516887(-;-)
Alt rs1057516887(-;-)
Reference Rs1057516887(GGTC;GGTC)
Significance Probable-Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51064579_51064582delGACC
CLNSRC
CLNACC RCV000411535.1,