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rs137853594

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853594(A;T)
Make rs137853594(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position18064501
GeneASAH1
is asnp
is mentioned by
dbSNPrs137853594
ebirs137853594
HLIrs137853594
Exacrs137853594
Varsomers137853594
Maprs137853594
PheGenIrs137853594
hapmaprs137853594
1000 genomesrs137853594
hgdprs137853594
ensemblrs137853594
gopubmedrs137853594
geneviewrs137853594
scholarrs137853594
googlers137853594
pharmgkbrs137853594
gwascentralrs137853594
openSNPrs137853594
23andMers137853594
23andMe allrs137853594
SNP Nexus

SNPshotrs137853594
SNPdbers137853594
MSV3drs137853594
GWAS Ctlgrs137853594
Merged fromRs28934273
Max Magnitude0
ClinVar
Risk rs137853594(T;T)
Alt rs137853594(T;T)
Reference rs137853594(A;A)
Significance Pathogenic
Disease Farber's lipogranulomatosis
Variation info
Gene ASAH1
CLNDBN Farber's lipogranulomatosis
Reversed 1
HGVS NC_000008.10:g.17922010T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000112.3,