rs864321627

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	8.3	Mental retardation, syndromic 33, X-linked
(C;T)	3	Carrier of a mutation for an X-linked form of mental retardation, syndromic 33
(T;T)	0	common in clinvar

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

71401691

Gene

TAF1

is a	snp
is	mentioned by
dbSNP	rs864321627
dbSNP (classic)	rs864321627
ClinGen	rs864321627
ebi	rs864321627
HLI	rs864321627
Exac	rs864321627
Gnomad	rs864321627
Varsome	rs864321627
LitVar	rs864321627
Map	rs864321627
PheGenI	rs864321627
Biobank	rs864321627
1000 genomes	rs864321627
hgdp	rs864321627
ensembl	rs864321627
geneview	rs864321627
scholar	rs864321627
google	rs864321627
pharmgkb	rs864321627
gwascentral	rs864321627
openSNP	rs864321627
23andMe	rs864321627
SNPshot	rs864321627
SNPdbe	rs864321627
MSV3d	rs864321627
GWAS Ctlg	rs864321627

Max Magnitude

8.3

c.4010T>C (p.Ile1337Thr)

ClinVar
Risk	Rs864321627(C;C)
Alt	Rs864321627(C;C)
Reference	Rs864321627(T;T)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	TAF1
CLNDBN	Mental retardation, X-linked, syndromic 33
Reversed	0
HGVS	NC_000023.10:g.70621541T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000203524.2,