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rs794728001

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTGT;CTGT) 0 common in clinvar
(TCTG;TCTG) 0 common in clinvar
Make rs794728001(-;-)
Make rs794728001(-;TCTG)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position30615774
GeneTCN2
is asnp
is mentioned by
dbSNPrs794728001
dbSNP (old)rs794728001
ClinGenrs794728001
ebirs794728001
HLIrs794728001
Exacrs794728001
Gnomadrs794728001
Varsomers794728001
Maprs794728001
PheGenIrs794728001
Biobankrs794728001
1000 genomesrs794728001
hgdprs794728001
ensemblrs794728001
gopubmedrs794728001
geneviewrs794728001
scholarrs794728001
googlers794728001
pharmgkbrs794728001
gwascentralrs794728001
openSNPrs794728001
23andMers794728001
23andMe allrs794728001
SNP Nexus

SNPshotrs794728001
SNPdbers794728001
MSV3drs794728001
GWAS Ctlgrs794728001
Merged fromRs796064506
Max Magnitude0
ClinVar
Risk rs794728001(-;-) Rs794728001(CTGT;CTGT)
Alt rs794728001(-;-) Rs794728001(CTGT;CTGT)
Reference Rs794728001(TCTG;TCTG)
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,