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rs137853593

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853593(A;A)
Make rs137853593(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position18061724
GeneASAH1
is asnp
is mentioned by
dbSNPrs137853593
ebirs137853593
HLIrs137853593
Exacrs137853593
Varsomers137853593
Maprs137853593
PheGenIrs137853593
hapmaprs137853593
1000 genomesrs137853593
hgdprs137853593
ensemblrs137853593
gopubmedrs137853593
geneviewrs137853593
scholarrs137853593
googlers137853593
pharmgkbrs137853593
gwascentralrs137853593
openSNPrs137853593
23andMers137853593
23andMe allrs137853593
SNP Nexus

SNPshotrs137853593
SNPdbers137853593
MSV3drs137853593
GWAS Ctlgrs137853593
Max Magnitude0
ClinVar
Risk rs137853593(A,G;A,G)
Alt rs137853593(A,G;A,G)
Reference rs137853593(C;C)
Significance Pathogenic
Disease Farber's lipogranulomatosis
Variation info
Gene ASAH1
CLNDBN Farber's lipogranulomatosis
Reversed 1
HGVS NC_000008.10:g.17919233G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000111.4,