rs138944476

Orientation

plus

Stabilized

plus

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

Make rs138944476(C;T)

Make rs138944476(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

41934112

Gene

KAT6A

is a	snp
is	mentioned by
dbSNP	rs138944476
dbSNP (classic)	rs138944476
ClinGen	rs138944476
ebi	rs138944476
HLI	rs138944476
Exac	rs138944476
Gnomad	rs138944476
Varsome	rs138944476
LitVar	rs138944476
Map	rs138944476
PheGenI	rs138944476
Biobank	rs138944476
1000 genomes	rs138944476
hgdp	rs138944476
ensembl	rs138944476
geneview	rs138944476
scholar	rs138944476
google	rs138944476
pharmgkb	rs138944476
gwascentral	rs138944476
openSNP	rs138944476
23andMe	rs138944476
SNPshot	rs138944476
SNPdbe	rs138944476
MSV3d	rs138944476
GWAS Ctlg	rs138944476

Max Magnitude

0

ClinVar
Risk	rs138944476(A;A) rs138944476(T;T)
Alt	rs138944476(A;A) rs138944476(T;T)
Reference	Rs138944476(C;C)
Significance	Pathogenic
Disease	Mental retardation not provided
Variation	info
Gene	KAT6A
CLNDBN	Mental retardation, autosomal dominant 32 not provided
Reversed	0
HGVS	NC_000008.10:g.41791630C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000167550.3, RCV000169643.2,