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rs137853596

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853596(A;G)
Make rs137853596(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position18059424
GeneASAH1
is asnp
is mentioned by
dbSNPrs137853596
ebirs137853596
HLIrs137853596
Exacrs137853596
Varsomers137853596
Maprs137853596
PheGenIrs137853596
hapmaprs137853596
1000 genomesrs137853596
hgdprs137853596
ensemblrs137853596
gopubmedrs137853596
geneviewrs137853596
scholarrs137853596
googlers137853596
pharmgkbrs137853596
gwascentralrs137853596
openSNPrs137853596
23andMers137853596
23andMe allrs137853596
SNP Nexus

SNPshotrs137853596
SNPdbers137853596
MSV3drs137853596
GWAS Ctlgrs137853596
Max Magnitude0
ClinVar
Risk rs137853596(G;G)
Alt rs137853596(G;G)
Reference rs137853596(A;A)
Significance Pathogenic
Disease Farber's lipogranulomatosis
Variation info
Gene ASAH1
CLNDBN Farber's lipogranulomatosis
Reversed 1
HGVS NC_000008.10:g.17916933T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000114.3,