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rs730882218

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882218(C;C)
Make rs730882218(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position49621979
GeneMGAT2, RPL36AL
is asnp
is mentioned by
dbSNPrs730882218
ebirs730882218
HLIrs730882218
Exacrs730882218
Varsomers730882218
Maprs730882218
PheGenIrs730882218
hapmaprs730882218
1000 genomesrs730882218
hgdprs730882218
ensemblrs730882218
gopubmedrs730882218
geneviewrs730882218
scholarrs730882218
googlers730882218
pharmgkbrs730882218
gwascentralrs730882218
openSNPrs730882218
23andMers730882218
23andMe allrs730882218
SNP Nexus

SNPshotrs730882218
SNPdbers730882218
MSV3drs730882218
GWAS Ctlgrs730882218
Max Magnitude0
ClinVar
Risk rs730882218(C;C)
Alt rs730882218(C;C)
Reference rs730882218(G;G)
Significance Pathogenic
Disease Carbohydrate-deficient glycoprotein syndrome type II Abnormal facial shape Abnormal glycosylation (CDG IIa) Global developmental delay
Variation info
Gene MGAT2 RPL36AL
CLNDBN Carbohydrate-deficient glycoprotein syndrome type II Abnormal facial shape Abnormal glycosylation (CDG IIa) Global developmental delay
Reversed 0
HGVS NC_000014.8:g.50088697G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023200.4, RCV000162128.1,