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rs104894380

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894380(C;C)
Make rs104894380(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109103562
GeneUNG
is asnp
is mentioned by
dbSNPrs104894380
ebirs104894380
HLIrs104894380
Exacrs104894380
Varsomers104894380
Maprs104894380
PheGenIrs104894380
hapmaprs104894380
1000 genomesrs104894380
hgdprs104894380
ensemblrs104894380
gopubmedrs104894380
geneviewrs104894380
scholarrs104894380
googlers104894380
pharmgkbrs104894380
gwascentralrs104894380
openSNPrs104894380
23andMers104894380
23andMe allrs104894380
SNP Nexus

SNPshotrs104894380
SNPdbers104894380
MSV3drs104894380
GWAS Ctlgrs104894380
Max Magnitude0
OMIM191525
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894380(C;C)
Alt rs104894380(C;C)
Reference rs104894380(T;T)
Significance Pathogenic
Disease Immunodeficiency with hyper IgM type 5
Variation info
Gene UNG
CLNDBN Immunodeficiency with hyper IgM type 5
Reversed 0
HGVS NC_000012.11:g.109541367T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013086.26,