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rs387906281

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906281(-;-)
Make rs387906281(-;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position99218145
GeneALG2
is asnp
is mentioned by
dbSNPrs387906281
dbSNP (classic)rs387906281
ClinGenrs387906281
ebirs387906281
HLIrs387906281
Exacrs387906281
Gnomadrs387906281
Varsomers387906281
LitVarrs387906281
Maprs387906281
PheGenIrs387906281
Biobankrs387906281
1000 genomesrs387906281
hgdprs387906281
ensemblrs387906281
geneviewrs387906281
scholarrs387906281
googlers387906281
pharmgkbrs387906281
gwascentralrs387906281
openSNPrs387906281
23andMers387906281
SNPshotrs387906281
SNPdbers387906281
MSV3drs387906281
GWAS Ctlgrs387906281
Max Magnitude0
ClinVar
Risk rs387906281(-;-)
Alt rs387906281(-;-)
Reference Rs387906281(G;G)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1I
Variation info
Gene ALG2
CLNDBN Congenital disorder of glycosylation type 1I
Reversed 1
HGVS NC_000009.11:g.101980427delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002818.3,