rs121918522

Orientation

minus

Stabilized

minus

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

Make rs121918522(C;T)

Make rs121918522(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

54014529

Gene

PHF8

is a	snp
is	mentioned by
dbSNP	rs121918522
dbSNP (classic)	rs121918522
ClinGen	rs121918522
ebi	rs121918522
HLI	rs121918522
Exac	rs121918522
Gnomad	rs121918522
Varsome	rs121918522
LitVar	rs121918522
Map	rs121918522
PheGenI	rs121918522
Biobank	rs121918522
1000 genomes	rs121918522
hgdp	rs121918522
ensembl	rs121918522
geneview	rs121918522
scholar	rs121918522
google	rs121918522
pharmgkb	rs121918522
gwascentral	rs121918522
openSNP	rs121918522
23andMe	rs121918522
SNPshot	rs121918522
SNPdbe	rs121918522
MSV3d	rs121918522
GWAS Ctlg	rs121918522

Max Magnitude

0

OMIM	300560
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918522(T;T)
Alt	rs121918522(T;T)
Reference	Rs121918522(C;C)
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.54040962G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011545.4,