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rs398124544

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124544(A;A)
Make rs398124544(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position43191596
GeneHGSNAT
is asnp
is mentioned by
dbSNPrs398124544
dbSNP (classic)rs398124544
ClinGenrs398124544
ebirs398124544
HLIrs398124544
Exacrs398124544
Gnomadrs398124544
Varsomers398124544
LitVarrs398124544
Maprs398124544
PheGenIrs398124544
Biobankrs398124544
1000 genomesrs398124544
hgdprs398124544
ensemblrs398124544
geneviewrs398124544
scholarrs398124544
googlers398124544
pharmgkbrs398124544
gwascentralrs398124544
openSNPrs398124544
23andMers398124544
SNPshotrs398124544
SNPdbers398124544
MSV3drs398124544
GWAS Ctlgrs398124544
Max Magnitude0
ClinVar
Risk rs398124544(A;A)
Alt rs398124544(A;A)
Reference Rs398124544(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene HGSNAT
CLNDBN not provided
Reversed 0
HGVS NC_000008.10:g.43046739G>A
CLNSRC HGMD
CLNACC RCV000082652.5,