rs121434614

Orientation

plus

Stabilized

plus

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

Make rs121434614(C;C)

Make rs121434614(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

111196570

Gene

PAK3

is a	snp
is	mentioned by
dbSNP	rs121434614
dbSNP (classic)	rs121434614
ClinGen	rs121434614
ebi	rs121434614
HLI	rs121434614
Exac	rs121434614
Gnomad	rs121434614
Varsome	rs121434614
LitVar	rs121434614
Map	rs121434614
PheGenI	rs121434614
Biobank	rs121434614
1000 genomes	rs121434614
hgdp	rs121434614
ensembl	rs121434614
geneview	rs121434614
scholar	rs121434614
google	rs121434614
pharmgkb	rs121434614
gwascentral	rs121434614
openSNP	rs121434614
23andMe	rs121434614
SNPshot	rs121434614
SNPdbe	rs121434614
MSV3d	rs121434614
GWAS Ctlg	rs121434614

Max Magnitude

0

OMIM	300142
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121434614(C;C)
Alt	rs121434614(C;C)
Reference	Rs121434614(G;G)
Significance	Pathogenic
Disease	Mental retardation 30
Variation	info
Gene	PAK3
CLNDBN	Mental retardation 30, X-linked
Reversed	0
HGVS	NC_000023.10:g.110439798G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012327.24,