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rs200455852

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200455852(G;G)
Make rs200455852(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position18064458
GeneASAH1
is asnp
is mentioned by
dbSNPrs200455852
ClinGenrs200455852
ebirs200455852
HLIrs200455852
Exacrs200455852
Varsomers200455852
Maprs200455852
PheGenIrs200455852
hapmaprs200455852
1000 genomesrs200455852
hgdprs200455852
ensemblrs200455852
gopubmedrs200455852
geneviewrs200455852
scholarrs200455852
googlers200455852
pharmgkbrs200455852
gwascentralrs200455852
openSNPrs200455852
23andMers200455852
23andMe allrs200455852
SNP Nexus

SNPshotrs200455852
SNPdbers200455852
MSV3drs200455852
GWAS Ctlgrs200455852
Max Magnitude0
ClinVar
Risk rs200455852(C;C) rs200455852(G;G)
Alt rs200455852(C;C) rs200455852(G;G)
Reference Rs200455852(T;T)
Significance Other
Disease Jankovic Rivera syndrome
Variation info
Gene ASAH1
CLNDBN Jankovic Rivera syndrome
Reversed 0
HGVS NC_000008.10:g.17921967T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000157605.3,