rs370011798

Orientation

plus

Stabilized

plus

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

Make rs370011798(C;C)

Make rs370011798(C;T)

Reference

GRCh38 38.1/142

Chromosome

3

Position

3146489

Gene

TRNT1

is a	snp
is	mentioned by
dbSNP	rs370011798
dbSNP (classic)	rs370011798
ClinGen	rs370011798
ebi	rs370011798
HLI	rs370011798
Exac	rs370011798
Gnomad	rs370011798
Varsome	rs370011798
LitVar	rs370011798
Map	rs370011798
PheGenI	rs370011798
Biobank	rs370011798
1000 genomes	rs370011798
hgdp	rs370011798
ensembl	rs370011798
geneview	rs370011798
scholar	rs370011798
google	rs370011798
pharmgkb	rs370011798
gwascentral	rs370011798
openSNP	rs370011798
23andMe	rs370011798
SNPshot	rs370011798
SNPdbe	rs370011798
MSV3d	rs370011798
GWAS Ctlg	rs370011798

Max Magnitude

0

ClinVar
Risk	rs370011798(C;C)
Alt	rs370011798(C;C)
Reference	Rs370011798(T;T)
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.3188173T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144947.4,