Rs104894447

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Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894447(A;G)
Make rs104894447(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position49622053
GeneMGAT2, RPL36AL
is asnp
is mentioned by
dbSNPrs104894447
Exacrs104894447
PheGenIrs104894447
nextbiors104894447
hapmaprs104894447
1000 genomesrs104894447
hgdprs104894447
ensemblrs104894447
gopubmedrs104894447
geneviewrs104894447
scholarrs104894447
googlers104894447
pharmgkbrs104894447
gwascentralrs104894447
openSNPrs104894447
23andMers104894447
23andMe allrs104894447
SNP Nexus

SNPshotrs104894447
SNPdbers104894447
MSV3drs104894447
Max Magnitude0
OMIM602616
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894447(G;G)
Alt rs104894447(G;G)
Reference rs104894447(A;A)
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.50088771A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007406.1,