rs122453115

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs122453115(A;A)

Make rs122453115(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

153688833

Gene	PNCK, SLC6A8

is a	snp
is	mentioned by
dbSNP	rs122453115
dbSNP (classic)	rs122453115
ClinGen	rs122453115
ebi	rs122453115
HLI	rs122453115
Exac	rs122453115
Gnomad	rs122453115
Varsome	rs122453115
LitVar	rs122453115
Map	rs122453115
PheGenI	rs122453115
Biobank	rs122453115
1000 genomes	rs122453115
hgdp	rs122453115
ensembl	rs122453115
geneview	rs122453115
scholar	rs122453115
google	rs122453115
pharmgkb	rs122453115
gwascentral	rs122453115
openSNP	rs122453115
23andMe	rs122453115
SNPshot	rs122453115
SNPdbe	rs122453115
MSV3d	rs122453115
GWAS Ctlg	rs122453115

Max Magnitude

0

OMIM	300036
Desc
Variant	0005
Related	also

ClinVar
Risk	rs122453115(A;A)
Alt	rs122453115(A;A)
Reference	Rs122453115(G;G)
Significance	Pathogenic
Disease	Creatine deficiency
Variation	info
Gene	SLC6A8
CLNDBN	Creatine deficiency, X-linked
Reversed	0
HGVS	NC_000023.10:g.152954288G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012466.25,