rs121918523

Orientation

minus

Stabilized

minus

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

Make rs121918523(A;T)

Make rs121918523(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

54016662

Gene

PHF8

is a	snp
is	mentioned by
dbSNP	rs121918523
dbSNP (classic)	rs121918523
ClinGen	rs121918523
ebi	rs121918523
HLI	rs121918523
Exac	rs121918523
Gnomad	rs121918523
Varsome	rs121918523
LitVar	rs121918523
Map	rs121918523
PheGenI	rs121918523
Biobank	rs121918523
1000 genomes	rs121918523
hgdp	rs121918523
ensembl	rs121918523
geneview	rs121918523
scholar	rs121918523
google	rs121918523
pharmgkb	rs121918523
gwascentral	rs121918523
openSNP	rs121918523
23andMe	rs121918523
SNPshot	rs121918523
SNPdbe	rs121918523
MSV3d	rs121918523
GWAS Ctlg	rs121918523

Max Magnitude

0

OMIM	300560
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918523(T;T)
Alt	rs121918523(T;T)
Reference	Rs121918523(A;A)
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.54043095T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011546.7,