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rs1057518473

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518473(C;C)
Make rs1057518473(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position18059388
GeneASAH1
is asnp
is mentioned by
dbSNPrs1057518473
dbSNP (old)rs1057518473
ClinGenrs1057518473
ebirs1057518473
HLIrs1057518473
Exacrs1057518473
Gnomadrs1057518473
Varsomers1057518473
LitVarrs1057518473
Maprs1057518473
PheGenIrs1057518473
Biobankrs1057518473
1000 genomesrs1057518473
hgdprs1057518473
ensemblrs1057518473
gopubmedrs1057518473
geneviewrs1057518473
scholarrs1057518473
googlers1057518473
pharmgkbrs1057518473
gwascentralrs1057518473
openSNPrs1057518473
23andMers1057518473
23andMe allrs1057518473
SNPshotrs1057518473
SNPdbers1057518473
MSV3drs1057518473
GWAS Ctlgrs1057518473
Max Magnitude0
ClinVar
Risk rs1057518473(C;C)
Alt rs1057518473(C;C)
Reference Rs1057518473(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene ASAH1
CLNDBN not provided
Reversed 1
HGVS NC_000008.10:g.17916897C>G
CLNSRC
CLNACC RCV000414472.1,