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rs1071645

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1071645(A;A)
Make rs1071645(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position18071302
GeneASAH1
is asnp
is mentioned by
dbSNPrs1071645
dbSNP (classic)rs1071645
ClinGenrs1071645
ebirs1071645
HLIrs1071645
Exacrs1071645
Gnomadrs1071645
Varsomers1071645
LitVarrs1071645
Maprs1071645
PheGenIrs1071645
Biobankrs1071645
1000 genomesrs1071645
hgdprs1071645
ensemblrs1071645
geneviewrs1071645
scholarrs1071645
googlers1071645
pharmgkbrs1071645
gwascentralrs1071645
openSNPrs1071645
23andMers1071645
SNPshotrs1071645
SNPdbers1071645
MSV3drs1071645
GWAS Ctlgrs1071645
Merged fromRs12544854
GMAF0.4238
Max Magnitude0
? (A;A) (A;G) (G;G) 28



ClinVar
Risk rs1071645(A;A)
Alt rs1071645(A;A)
Reference Rs1071645(G;G)
Significance Non-pathogenic
Disease not specified Farber's lipogranulomatosis
Variation info
Gene ASAH1
CLNDBN not specified Farber's lipogranulomatosis
Reversed 1
HGVS NC_000008.10:g.17928811C>T
CLNSRC
CLNACC RCV000253040.1, RCV000343910.1,