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rs398124348

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124348(C;T)
Make rs398124348(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position5082565
GeneALG1
is asnp
is mentioned by
dbSNPrs398124348
dbSNP (classic)rs398124348
ClinGenrs398124348
ebirs398124348
HLIrs398124348
Exacrs398124348
Gnomadrs398124348
Varsomers398124348
LitVarrs398124348
Maprs398124348
PheGenIrs398124348
Biobankrs398124348
1000 genomesrs398124348
hgdprs398124348
ensemblrs398124348
geneviewrs398124348
scholarrs398124348
googlers398124348
pharmgkbrs398124348
gwascentralrs398124348
openSNPrs398124348
23andMers398124348
SNPshotrs398124348
SNPdbers398124348
MSV3drs398124348
GWAS Ctlgrs398124348
Max Magnitude0
ClinVar
Risk rs398124348(T;T)
Alt rs398124348(T;T)
Reference Rs398124348(C;C)
Significance Pathogenic
Disease not provided Inborn genetic diseases
Variation info
Gene ALG1
CLNDBN not provided Inborn genetic diseases
Reversed 0
HGVS NC_000016.9:g.5132566C>T
CLNSRC ClinVar Emory University
CLNACC RCV000081981.4, RCV000210723.1,