rs606231119

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs606231119(G;G)

Make rs606231119(G;T)

Reference

GRCh38.p2 38.2/144

Chromosome

22

Position

30613044

Gene

TCN2

is a	snp
is	mentioned by
dbSNP	rs606231119
dbSNP (classic)	rs606231119
ClinGen	rs606231119
ebi	rs606231119
HLI	rs606231119
Exac	rs606231119
Gnomad	rs606231119
Varsome	rs606231119
LitVar	rs606231119
Map	rs606231119
PheGenI	rs606231119
Biobank	rs606231119
1000 genomes	rs606231119
hgdp	rs606231119
ensembl	rs606231119
geneview	rs606231119
scholar	rs606231119
google	rs606231119
pharmgkb	rs606231119
gwascentral	rs606231119
openSNP	rs606231119
23andMe	rs606231119
SNPshot	rs606231119
SNPdbe	rs606231119
MSV3d	rs606231119
GWAS Ctlg	rs606231119

Max Magnitude

0

ClinVar
Risk	rs606231119(G;G)
Alt	rs606231119(G;G)
Reference	Rs606231119(T;T)
Significance	Pathogenic
Disease	Transcolabamin II deficiency
Variation	info
Gene	TCN2
CLNDBN	Transcolabamin II deficiency
Reversed	0
HGVS	NC_000022.10:g.31009031T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000118.2,