rs374993554

Orientation

plus

Stabilized

plus

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

Make rs374993554(A;G)

Make rs374993554(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

100113899

Gene

TAF6

is a	snp
is	mentioned by
dbSNP	rs374993554
dbSNP (classic)	rs374993554
ClinGen	rs374993554
ebi	rs374993554
HLI	rs374993554
Exac	rs374993554
Gnomad	rs374993554
Varsome	rs374993554
LitVar	rs374993554
Map	rs374993554
PheGenI	rs374993554
Biobank	rs374993554
1000 genomes	rs374993554
hgdp	rs374993554
ensembl	rs374993554
geneview	rs374993554
scholar	rs374993554
google	rs374993554
pharmgkb	rs374993554
gwascentral	rs374993554
openSNP	rs374993554
23andMe	rs374993554
SNPshot	rs374993554
SNPdbe	rs374993554
MSV3d	rs374993554
GWAS Ctlg	rs374993554

Max Magnitude

0

ClinVar
Risk	rs374993554(G;G) rs374993554(T;T)
Alt	rs374993554(G;G) rs374993554(T;T)
Reference	Rs374993554(A;A)
Significance	Pathogenic
Disease	Syndromic intellectual disability Abnormal facial shape Global developmental delay Alazami-Yuan syndrome
Variation	info
Gene	TAF6
CLNDBN	Syndromic intellectual disability Abnormal facial shape Global developmental delay Alazami-Yuan syndrome
Reversed	0
HGVS	NC_000007.13:g.99711522A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000157055.1, RCV000162155.1, RCV000241535.1,