rs121434287

Orientation

minus

Stabilized

minus

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

Make rs121434287(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

144415295

Gene

SLC39A4

is a	snp
is	mentioned by
dbSNP	rs121434287
dbSNP (classic)	rs121434287
ClinGen	rs121434287
ebi	rs121434287
HLI	rs121434287
Exac	rs121434287
Gnomad	rs121434287
Varsome	rs121434287
LitVar	rs121434287
Map	rs121434287
PheGenI	rs121434287
Biobank	rs121434287
1000 genomes	rs121434287
hgdp	rs121434287
ensembl	rs121434287
geneview	rs121434287
scholar	rs121434287
google	rs121434287
pharmgkb	rs121434287
gwascentral	rs121434287
openSNP	rs121434287
23andMe	rs121434287
SNPshot	rs121434287
SNPdbe	rs121434287
MSV3d	rs121434287
GWAS Ctlg	rs121434287

Max Magnitude

3

aka c.599C>T (p.Pro200Leu)

OMIM	607059
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121434287(T;T)
Alt	rs121434287(T;T)
Reference	Rs121434287(C;C)
Significance	Pathogenic
Disease	Hereditary acrodermatitis enteropathica
Variation	info
Gene	SLC39A4
CLNDBN	Hereditary acrodermatitis enteropathica
Reversed	1
HGVS	NC_000008.10:g.145640679G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003715.3,