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rs398124545

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124545(A;A)
Make rs398124545(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position43193844
GeneHGSNAT
is asnp
is mentioned by
dbSNPrs398124545
dbSNP (classic)rs398124545
ClinGenrs398124545
ebirs398124545
HLIrs398124545
Exacrs398124545
Gnomadrs398124545
Varsomers398124545
LitVarrs398124545
Maprs398124545
PheGenIrs398124545
Biobankrs398124545
1000 genomesrs398124545
hgdprs398124545
ensemblrs398124545
geneviewrs398124545
scholarrs398124545
googlers398124545
pharmgkbrs398124545
gwascentralrs398124545
openSNPrs398124545
23andMers398124545
SNPshotrs398124545
SNPdbers398124545
MSV3drs398124545
GWAS Ctlgrs398124545
Max Magnitude0
ClinVar
Risk rs398124545(A;A)
Alt rs398124545(A;A)
Reference Rs398124545(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene HGSNAT
CLNDBN not provided
Reversed 0
HGVS NC_000008.10:g.43048987G>A
CLNSRC HGMD
CLNACC RCV000082654.4,