rs28935171

Orientation

minus

Stabilized

minus

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

Make rs28935171(A;A)

Make rs28935171(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

20155435

Gene

RPS6KA3

is a	snp
is	mentioned by
dbSNP	rs28935171
dbSNP (classic)	rs28935171
ClinGen	rs28935171
ebi	rs28935171
HLI	rs28935171
Exac	rs28935171
Gnomad	rs28935171
Varsome	rs28935171
LitVar	rs28935171
Map	rs28935171
PheGenI	rs28935171
Biobank	rs28935171
1000 genomes	rs28935171
hgdp	rs28935171
ensembl	rs28935171
geneview	rs28935171
scholar	rs28935171
google	rs28935171
pharmgkb	rs28935171
gwascentral	rs28935171
openSNP	rs28935171
23andMe	rs28935171
SNPshot	rs28935171
SNPdbe	rs28935171
MSV3d	rs28935171
GWAS Ctlg	rs28935171

Max Magnitude

0

OMIM	300075
Desc	COFFIN-LOWRY SYNDROME
Variant	0009
Related	also

ClinVar
Risk	rs28935171(A;A)
Alt	rs28935171(A;A)
Reference	Rs28935171(G;G)
Significance	Pathogenic
Disease	Coffin-Lowry syndrome not provided
Variation	info
Gene	RPS6KA3
CLNDBN	Coffin-Lowry syndrome not provided
Reversed	1
HGVS	NC_000023.10:g.20173553C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012424.23, RCV000413967.1,