rs864321629

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

71398627

Gene

TAF1

is a	snp
is	mentioned by
dbSNP	rs864321629
dbSNP (classic)	rs864321629
ClinGen	rs864321629
ebi	rs864321629
HLI	rs864321629
Exac	rs864321629
Gnomad	rs864321629
Varsome	rs864321629
LitVar	rs864321629
Map	rs864321629
PheGenI	rs864321629
Biobank	rs864321629
1000 genomes	rs864321629
hgdp	rs864321629
ensembl	rs864321629
geneview	rs864321629
scholar	rs864321629
google	rs864321629
pharmgkb	rs864321629
gwascentral	rs864321629
openSNP	rs864321629
23andMe	rs864321629
SNPshot	rs864321629
SNPdbe	rs864321629
MSV3d	rs864321629
GWAS Ctlg	rs864321629

Max Magnitude

8.3

c.3736C>T (p.Arg1246Trp)

ClinVar
Risk	Rs864321629(T;T)
Alt	Rs864321629(T;T)
Reference	Rs864321629(C;C)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	TAF1
CLNDBN	Mental retardation, X-linked, syndromic 33
Reversed	0
HGVS	NC_000023.10:g.70618477C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000203515.2,