Rs104894449

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Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894449(A;A)
Make rs104894449(A;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position49622285
GeneMGAT2, RPL36AL
is asnp
is mentioned by
dbSNPrs104894449
Exacrs104894449
PheGenIrs104894449
nextbiors104894449
hapmaprs104894449
1000 genomesrs104894449
hgdprs104894449
ensemblrs104894449
gopubmedrs104894449
geneviewrs104894449
scholarrs104894449
googlers104894449
pharmgkbrs104894449
gwascentralrs104894449
openSNPrs104894449
23andMers104894449
23andMe allrs104894449
SNP Nexus

SNPshotrs104894449
SNPdbers104894449
MSV3drs104894449
OMIM602616
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894449(A;A)
Alt rs104894449(A;A)
Reference rs104894449(T;T)
Significance Pathogenic
Disease Carbohydrate-deficient glycoprotein syndrome type II
Variation info
Gene MGAT2 RPL36AL
CLNDBN Carbohydrate-deficient glycoprotein syndrome type II
Reversed 0
HGVS NC_000014.8:g.50089003T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007408.1,