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rs794729663

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794729663(G;T)
Make rs794729663(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position18059639
GeneASAH1
is asnp
is mentioned by
dbSNPrs794729663
ebirs794729663
HLIrs794729663
Exacrs794729663
Varsomers794729663
Maprs794729663
PheGenIrs794729663
hapmaprs794729663
1000 genomesrs794729663
hgdprs794729663
ensemblrs794729663
gopubmedrs794729663
geneviewrs794729663
scholarrs794729663
googlers794729663
pharmgkbrs794729663
gwascentralrs794729663
openSNPrs794729663
23andMers794729663
23andMe allrs794729663
SNP Nexus

SNPshotrs794729663
SNPdbers794729663
MSV3drs794729663
GWAS Ctlgrs794729663
Max Magnitude0
ClinVar
Risk rs794729663(T;T)
Alt rs794729663(T;T)
Reference rs794729663(G;G)
Significance Pathogenic
Disease Jankovic Rivera syndrome
Variation info
Gene ASAH1
CLNDBN Jankovic Rivera syndrome
Reversed 1
HGVS NC_000008.10:g.17917148C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000157604.4,