rs199470468

Orientation

plus

Stabilized

plus

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

Make rs199470468(-;-)

Make rs199470468(-;A)

Reference

GRCh38.p2 38.2/144

Chromosome

10

Position

75021282

Gene

KAT6B

is a	snp
is	mentioned by
dbSNP	rs199470468
dbSNP (classic)	rs199470468
ClinGen	rs199470468
ebi	rs199470468
HLI	rs199470468
Exac	rs199470468
Gnomad	rs199470468
Varsome	rs199470468
LitVar	rs199470468
Map	rs199470468
PheGenI	rs199470468
Biobank	rs199470468
1000 genomes	rs199470468
hgdp	rs199470468
ensembl	rs199470468
geneview	rs199470468
scholar	rs199470468
google	rs199470468
pharmgkb	rs199470468
gwascentral	rs199470468
openSNP	rs199470468
23andMe	rs199470468
SNPshot	rs199470468
SNPdbe	rs199470468
MSV3d	rs199470468
GWAS Ctlg	rs199470468

Max Magnitude

0

ClinVar
Risk	rs199470468(-;-)
Alt	rs199470468(-;-)
Reference	Rs199470468(A;A)
Significance	Pathogenic
Disease	Young Simpson syndrome not provided
Variation	info
Gene	KAT6B
CLNDBN	Young Simpson syndrome not provided
Reversed	0
HGVS	NC_000010.10:g.76781040delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023484.4, RCV000128643.1,