rs121918680

Orientation

plus

Stabilized

plus

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

Make rs121918680(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

133759306

Gene

TF

is a	snp
is	mentioned by
dbSNP	rs121918680
dbSNP (classic)	rs121918680
ClinGen	rs121918680
ebi	rs121918680
HLI	rs121918680
Exac	rs121918680
Gnomad	rs121918680
Varsome	rs121918680
LitVar	rs121918680
Map	rs121918680
PheGenI	rs121918680
Biobank	rs121918680
1000 genomes	rs121918680
hgdp	rs121918680
ensembl	rs121918680
geneview	rs121918680
scholar	rs121918680
google	rs121918680
pharmgkb	rs121918680
gwascentral	rs121918680
openSNP	rs121918680
23andMe	rs121918680
SNPshot	rs121918680
SNPdbe	rs121918680
MSV3d	rs121918680
GWAS Ctlg	rs121918680

Max Magnitude

1

OMIM	190000
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121918680(A;A)
Alt	rs121918680(A;A)
Reference	Rs121918680(G;G)
Significance	Pathogenic
Disease	Atransferrinemia
Variation	info
Gene	TF
CLNDBN	Atransferrinemia
Reversed	0
HGVS	NC_000003.11:g.133478150G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013458.17,