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rs10103355

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs10103355(A;A)
Make rs10103355(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position18061425
GeneASAH1
is asnp
is mentioned by
dbSNPrs10103355
ebirs10103355
HLIrs10103355
Exacrs10103355
Varsomers10103355
Maprs10103355
PheGenIrs10103355
hapmaprs10103355
1000 genomesrs10103355
hgdprs10103355
ensemblrs10103355
gopubmedrs10103355
geneviewrs10103355
scholarrs10103355
googlers10103355
pharmgkbrs10103355
gwascentralrs10103355
openSNPrs10103355
23andMers10103355
23andMe allrs10103355
SNP Nexus

SNPshotrs10103355
SNPdbers10103355
MSV3drs10103355
GWAS Ctlgrs10103355
GMAF0.1437
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene ASAH1
allele G
frequency 0.983
sift TOLERATED
HuRef 1103652261371
Disease Association Defects in ASAH1 are the cause of Farber disease (FD) (MIM:228000); also known as Farber lipogranulomatosis. This sphingolipid disease is characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremeties, marked accumulation of ceramide in lysosomes, and death by three years of age.



GET Evidence
ASAH1-V262A
aa_change Val262Ala
aa_change_short V262A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.835938
summary