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rs587777323

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777323(A;A)
Make rs587777323(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position74464705
GeneMOGS
is asnp
is mentioned by
dbSNPrs587777323
dbSNP (classic)rs587777323
ClinGenrs587777323
ebirs587777323
HLIrs587777323
Exacrs587777323
Gnomadrs587777323
Varsomers587777323
LitVarrs587777323
Maprs587777323
PheGenIrs587777323
Biobankrs587777323
1000 genomesrs587777323
hgdprs587777323
ensemblrs587777323
geneviewrs587777323
scholarrs587777323
googlers587777323
pharmgkbrs587777323
gwascentralrs587777323
openSNPrs587777323
23andMers587777323
SNPshotrs587777323
SNPdbers587777323
MSV3drs587777323
GWAS Ctlgrs587777323
Max Magnitude0
ClinVar
Risk rs587777323(A;A)
Alt rs587777323(A;A)
Reference Rs587777323(G;G)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 2B
Variation info
Gene MOGS
CLNDBN Congenital disorder of glycosylation type 2B
Reversed 0
HGVS NC_000002.11:g.74691832G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000114956.7,