rs122454124

Orientation

minus

Stabilized

minus

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

Make rs122454124(G;T)

Make rs122454124(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

20209307

Gene

RPS6KA3

is a	snp
is	mentioned by
dbSNP	rs122454124
dbSNP (classic)	rs122454124
ClinGen	rs122454124
ebi	rs122454124
HLI	rs122454124
Exac	rs122454124
Gnomad	rs122454124
Varsome	rs122454124
LitVar	rs122454124
Map	rs122454124
PheGenI	rs122454124
Biobank	rs122454124
1000 genomes	rs122454124
hgdp	rs122454124
ensembl	rs122454124
geneview	rs122454124
scholar	rs122454124
google	rs122454124
pharmgkb	rs122454124
gwascentral	rs122454124
openSNP	rs122454124
23andMe	rs122454124
SNPshot	rs122454124
SNPdbe	rs122454124
MSV3d	rs122454124
GWAS Ctlg	rs122454124

Max Magnitude

0

OMIM	300075
Desc
Variant	0002
Related	also

ClinVar
Risk	rs122454124(T;T)
Alt	rs122454124(T;T)
Reference	Rs122454124(G;G)
Significance	Pathogenic
Disease	Coffin-Lowry syndrome
Variation	info
Gene	RPS6KA3
CLNDBN	Coffin-Lowry syndrome
Reversed	1
HGVS	NC_000023.10:g.20227425C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012417.25,