Have questions? Visit https://www.reddit.com/r/SNPedia

rs137853597

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853597(C;G)
Make rs137853597(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position18062383
GeneASAH1
is asnp
is mentioned by
dbSNPrs137853597
ebirs137853597
HLIrs137853597
Exacrs137853597
Varsomers137853597
Maprs137853597
PheGenIrs137853597
hapmaprs137853597
1000 genomesrs137853597
hgdprs137853597
ensemblrs137853597
gopubmedrs137853597
geneviewrs137853597
scholarrs137853597
googlers137853597
pharmgkbrs137853597
gwascentralrs137853597
openSNPrs137853597
23andMers137853597
23andMe allrs137853597
SNP Nexus

SNPshotrs137853597
SNPdbers137853597
MSV3drs137853597
GWAS Ctlgrs137853597
Max Magnitude0
ClinVar
Risk rs137853597(G;G)
Alt rs137853597(G;G)
Reference rs137853597(C;C)
Significance Pathogenic
Disease Farber's lipogranulomatosis
Variation info
Gene ASAH1
CLNDBN Farber's lipogranulomatosis
Reversed 1
HGVS NC_000008.10:g.17919892G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000115.3,