rs121434290

Orientation

minus

Stabilized

minus

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

Make rs121434290(A;A)

Reference

GRCh38 38.1/141

Chromosome

8

Position

144415966

Gene

SLC39A4

is a	snp
is	mentioned by
dbSNP	rs121434290
dbSNP (classic)	rs121434290
ClinGen	rs121434290
ebi	rs121434290
HLI	rs121434290
Exac	rs121434290
Gnomad	rs121434290
Varsome	rs121434290
LitVar	rs121434290
Map	rs121434290
PheGenI	rs121434290
Biobank	rs121434290
1000 genomes	rs121434290
hgdp	rs121434290
ensembl	rs121434290
geneview	rs121434290
scholar	rs121434290
google	rs121434290
pharmgkb	rs121434290
gwascentral	rs121434290
openSNP	rs121434290
23andMe	rs121434290
SNPshot	rs121434290
SNPdbe	rs121434290
MSV3d	rs121434290
GWAS Ctlg	rs121434290

Max Magnitude

3

aka c.318C>A (p.Asn106Lys)

OMIM	607059
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121434290(A;A)
Alt	rs121434290(A;A)
Reference	Rs121434290(C;C)
Significance	Pathogenic
Disease	Hereditary acrodermatitis enteropathica
Variation	info
Gene	SLC39A4
CLNDBN	Hereditary acrodermatitis enteropathica
Reversed	1
HGVS	NC_000008.10:g.145641350G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003718.3,