rs122453117

Orientation

plus

Stabilized

plus

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

Make rs122453117(G;T)

Make rs122453117(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

153691304

Gene

SLC6A8

is a	snp
is	mentioned by
dbSNP	rs122453117
dbSNP (classic)	rs122453117
ClinGen	rs122453117
ebi	rs122453117
HLI	rs122453117
Exac	rs122453117
Gnomad	rs122453117
Varsome	rs122453117
LitVar	rs122453117
Map	rs122453117
PheGenI	rs122453117
Biobank	rs122453117
1000 genomes	rs122453117
hgdp	rs122453117
ensembl	rs122453117
geneview	rs122453117
scholar	rs122453117
google	rs122453117
pharmgkb	rs122453117
gwascentral	rs122453117
openSNP	rs122453117
23andMe	rs122453117
SNPshot	rs122453117
SNPdbe	rs122453117
MSV3d	rs122453117
GWAS Ctlg	rs122453117

Max Magnitude

0

OMIM	300036
Desc
Variant	0008
Related	also

ClinVar
Risk	rs122453117(T;T)
Alt	rs122453117(T;T)
Reference	Rs122453117(G;G)
Significance	Pathogenic
Disease	Creatine deficiency
Variation	info
Gene	SLC6A8
CLNDBN	Creatine deficiency, X-linked
Reversed	0
HGVS	NC_000023.10:g.152956759G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012469.15,