rs794728001

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CTGT;CTGT)	0	common in clinvar
(I;I)	0	common genotype
(TCTG;TCTG)	0	common in clinvar

Make rs794728001(-;-)

Make rs794728001(-;TCTG)

Reference

GRCh38.p2 38.2/147

Chromosome

22

Position

30615774

Gene

TCN2

is a	snp
is	mentioned by
dbSNP	rs794728001
dbSNP (classic)	rs794728001
ClinGen	rs794728001
ebi	rs794728001
HLI	rs794728001
Exac	rs794728001
Gnomad	rs794728001
Varsome	rs794728001
LitVar	rs794728001
Map	rs794728001
PheGenI	rs794728001
Biobank	rs794728001
1000 genomes	rs794728001
hgdp	rs794728001
ensembl	rs794728001
geneview	rs794728001
scholar	rs794728001
google	rs794728001
pharmgkb	rs794728001
gwascentral	rs794728001
openSNP	rs794728001
23andMe	rs794728001
SNPshot	rs794728001
SNPdbe	rs794728001
MSV3d	rs794728001
GWAS Ctlg	rs794728001

Merged from

Rs796064506

Max Magnitude

0

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,