rs121434293

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;G)	3	Carrier of an acrodermatitis enteropathica mutation
(G;G)	0	common in complete genomics

Make rs121434293(C;C)

Reference

GRCh38 38.1/141

Chromosome

8

Position

144414792

Gene

SLC39A4

is a	snp
is	mentioned by
dbSNP	rs121434293
dbSNP (classic)	rs121434293
ClinGen	rs121434293
ebi	rs121434293
HLI	rs121434293
Exac	rs121434293
Gnomad	rs121434293
Varsome	rs121434293
LitVar	rs121434293
Map	rs121434293
PheGenI	rs121434293
Biobank	rs121434293
1000 genomes	rs121434293
hgdp	rs121434293
ensembl	rs121434293
geneview	rs121434293
scholar	rs121434293
google	rs121434293
pharmgkb	rs121434293
gwascentral	rs121434293
openSNP	rs121434293
23andMe	rs121434293
SNPshot	rs121434293
SNPdbe	rs121434293
MSV3d	rs121434293
GWAS Ctlg	rs121434293

Max Magnitude

3

aka c.909G>C (p.Gln303His)

OMIM	607059
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121434293(C;C)
Alt	rs121434293(C;C)
Reference	Rs121434293(G;G)
Significance	Pathogenic
Disease	Hereditary acrodermatitis enteropathica
Variation	info
Gene	SLC39A4
CLNDBN	Hereditary acrodermatitis enteropathica
Reversed	1
HGVS	NC_000008.10:g.145640176C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003723.3,