rs121918524

Orientation

minus

Stabilized

minus

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

Make rs121918524(C;C)

Make rs121918524(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

54011232

Gene

PHF8

is a	snp
is	mentioned by
dbSNP	rs121918524
dbSNP (classic)	rs121918524
ClinGen	rs121918524
ebi	rs121918524
HLI	rs121918524
Exac	rs121918524
Gnomad	rs121918524
Varsome	rs121918524
LitVar	rs121918524
Map	rs121918524
PheGenI	rs121918524
Biobank	rs121918524
1000 genomes	rs121918524
hgdp	rs121918524
ensembl	rs121918524
geneview	rs121918524
scholar	rs121918524
google	rs121918524
pharmgkb	rs121918524
gwascentral	rs121918524
openSNP	rs121918524
23andMe	rs121918524
SNPshot	rs121918524
SNPdbe	rs121918524
MSV3d	rs121918524
GWAS Ctlg	rs121918524

Max Magnitude

0

OMIM	300560
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918524(C;C)
Alt	rs121918524(C;C)
Reference	Rs121918524(T;T)
Significance	Pathogenic
Disease	Siderius X-linked mental retardation syndrome
Variation	info
Gene	PHF8
CLNDBN	Siderius X-linked mental retardation syndrome
Reversed	1
HGVS	NC_000023.10:g.54037665A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011547.2,