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rs145873635

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs145873635(A;A)
Make rs145873635(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position18075541
GeneASAH1
is asnp
is mentioned by
dbSNPrs145873635
dbSNP (classic)rs145873635
ClinGenrs145873635
ebirs145873635
HLIrs145873635
Exacrs145873635
Gnomadrs145873635
Varsomers145873635
LitVarrs145873635
Maprs145873635
PheGenIrs145873635
Biobankrs145873635
1000 genomesrs145873635
hgdprs145873635
ensemblrs145873635
geneviewrs145873635
scholarrs145873635
googlers145873635
pharmgkbrs145873635
gwascentralrs145873635
openSNPrs145873635
23andMers145873635
SNPshotrs145873635
SNPdbers145873635
MSV3drs145873635
GWAS Ctlgrs145873635
Max Magnitude0
ClinVar
Risk rs145873635(A;A)
Alt rs145873635(A;A)
Reference Rs145873635(G;G)
Significance Pathogenic
Disease Jankovic Rivera syndrome
Variation info
Gene ASAH1
CLNDBN Jankovic Rivera syndrome
Reversed 0
HGVS NC_000008.10:g.17933050G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029199.4,