rs121918681

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	1	unaffected carrier of a transferrin atransferrinemia allele
(G;G)	0	common in clinvar

Make rs121918681(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

133753607

Gene

TF

is a	snp
is	mentioned by
dbSNP	rs121918681
dbSNP (classic)	rs121918681
ClinGen	rs121918681
ebi	rs121918681
HLI	rs121918681
Exac	rs121918681
Gnomad	rs121918681
Varsome	rs121918681
LitVar	rs121918681
Map	rs121918681
PheGenI	rs121918681
Biobank	rs121918681
1000 genomes	rs121918681
hgdp	rs121918681
ensembl	rs121918681
geneview	rs121918681
scholar	rs121918681
google	rs121918681
pharmgkb	rs121918681
gwascentral	rs121918681
openSNP	rs121918681
23andMe	rs121918681
SNPshot	rs121918681
SNPdbe	rs121918681
MSV3d	rs121918681
GWAS Ctlg	rs121918681

Max Magnitude

1

OMIM	190000
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121918681(A;A)
Alt	rs121918681(A;A)
Reference	Rs121918681(G;G)
Significance	Pathogenic
Disease	Atransferrinemia
Variation	info
Gene	TF
CLNDBN	Atransferrinemia
Reversed	0
HGVS	NC_000003.11:g.133472451G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013456.25,