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rs796064506

From SNPedia

Orientationplus
Geno Mag Summary
(CTGT;CTGT) 0 common in clinvar
Make rs796064506(-;-)
Make rs796064506(-;CTGT)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position30615771
GeneTCN2
is asnp
is mentioned by
dbSNPrs796064506
ebirs796064506
HLIrs796064506
Exacrs796064506
Varsomers796064506
Maprs796064506
PheGenIrs796064506
hapmaprs796064506
1000 genomesrs796064506
hgdprs796064506
ensemblrs796064506
gopubmedrs796064506
geneviewrs796064506
scholarrs796064506
googlers796064506
pharmgkbrs796064506
gwascentralrs796064506
openSNPrs796064506
23andMers796064506
23andMe allrs796064506
SNP Nexus

SNPshotrs796064506
SNPdbers796064506
MSV3drs796064506
GWAS Ctlgrs796064506
Max Magnitude0
ClinVar
Risk rs796064506(;)
Alt rs796064506(;)
Reference rs796064506(CTGT;CTGT)
Significance Pathogenic
Disease Transcobalamin II deficiency
Variation info
Gene TCN2
CLNDBN Transcobalamin II deficiency
Reversed 0
HGVS NC_000022.10:g.31011761_31011764delTCTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000000116.3,