rs606231290

Orientation

plus

Stabilized

plus

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

Make rs606231290(C;T)

Make rs606231290(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

3140628

Gene

TRNT1

is a	snp
is	mentioned by
dbSNP	rs606231290
dbSNP (classic)	rs606231290
ClinGen	rs606231290
ebi	rs606231290
HLI	rs606231290
Exac	rs606231290
Gnomad	rs606231290
Varsome	rs606231290
LitVar	rs606231290
Map	rs606231290
PheGenI	rs606231290
Biobank	rs606231290
1000 genomes	rs606231290
hgdp	rs606231290
ensembl	rs606231290
geneview	rs606231290
scholar	rs606231290
google	rs606231290
pharmgkb	rs606231290
gwascentral	rs606231290
openSNP	rs606231290
23andMe	rs606231290
SNPshot	rs606231290
SNPdbe	rs606231290
MSV3d	rs606231290
GWAS Ctlg	rs606231290

Max Magnitude

0

ClinVar
Risk	rs606231290(T;T)
Alt	rs606231290(T;T)
Reference	Rs606231290(C;C)
Significance	Pathogenic
Disease	Sideroblastic anemia with B-cell immunodeficiency
Variation	info
Gene	TRNT1
CLNDBN	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Reversed	0
HGVS	NC_000003.11:g.3182312C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144950.4,