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rs137853595

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853595(A;G)
Make rs137853595(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position18075559
GeneASAH1
is asnp
is mentioned by
dbSNPrs137853595
ebirs137853595
HLIrs137853595
Exacrs137853595
Varsomers137853595
Maprs137853595
PheGenIrs137853595
hapmaprs137853595
1000 genomesrs137853595
hgdprs137853595
ensemblrs137853595
gopubmedrs137853595
geneviewrs137853595
scholarrs137853595
googlers137853595
pharmgkbrs137853595
gwascentralrs137853595
openSNPrs137853595
23andMers137853595
23andMe allrs137853595
SNP Nexus

SNPshotrs137853595
SNPdbers137853595
MSV3drs137853595
GWAS Ctlgrs137853595
Max Magnitude0
ClinVar
Risk rs137853595(G;G)
Alt rs137853595(G;G)
Reference rs137853595(A;A)
Significance Pathogenic
Disease Farber's lipogranulomatosis
Variation info
Gene ASAH1
CLNDBN Farber's lipogranulomatosis
Reversed 1
HGVS NC_000008.10:g.17933068T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000113.3,