rs387907018

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	3	Carrier of an iron-refractory iron deficiency anemia mutation
(G;G)	0	common in clinvar

Make rs387907018(A;A)

Reference

GRCh38 38.1/141

Chromosome

22

Position

37073550

Gene

TMPRSS6

is a	snp
is	mentioned by
dbSNP	rs387907018
dbSNP (classic)	rs387907018
ClinGen	rs387907018
ebi	rs387907018
HLI	rs387907018
Exac	rs387907018
Gnomad	rs387907018
Varsome	rs387907018
LitVar	rs387907018
Map	rs387907018
PheGenI	rs387907018
Biobank	rs387907018
1000 genomes	rs387907018
hgdp	rs387907018
ensembl	rs387907018
geneview	rs387907018
scholar	rs387907018
google	rs387907018
pharmgkb	rs387907018
gwascentral	rs387907018
openSNP	rs387907018
23andMe	rs387907018
SNPshot	rs387907018
SNPdbe	rs387907018
MSV3d	rs387907018
GWAS Ctlg	rs387907018

Max Magnitude

3

aka c.1564G>A (p.Glu522Lys or E522K)

ClinVar
Risk	rs387907018(A;A)
Alt	rs387907018(A;A)
Reference	Rs387907018(G;G)
Significance	Pathogenic
Disease	Microcytic anemia
Variation	info
Gene	TMPRSS6
CLNDBN	Microcytic anemia
Reversed	1
HGVS	NC_000022.10:g.37469590C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023787.4,