rs199470479

Orientation

plus

Stabilized

plus

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

Make rs199470479(-;T)

Make rs199470479(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

10

Position

75029229

Gene	DUPD1, KAT6B

is a	snp
is	mentioned by
dbSNP	rs199470479
dbSNP (classic)	rs199470479
ClinGen	rs199470479
ebi	rs199470479
HLI	rs199470479
Exac	rs199470479
Gnomad	rs199470479
Varsome	rs199470479
LitVar	rs199470479
Map	rs199470479
PheGenI	rs199470479
Biobank	rs199470479
1000 genomes	rs199470479
hgdp	rs199470479
ensembl	rs199470479
geneview	rs199470479
scholar	rs199470479
google	rs199470479
pharmgkb	rs199470479
gwascentral	rs199470479
openSNP	rs199470479
23andMe	rs199470479
SNPshot	rs199470479
SNPdbe	rs199470479
MSV3d	rs199470479
GWAS Ctlg	rs199470479

Max Magnitude

0

ClinVar
Risk	rs199470479(T;T)
Alt	rs199470479(T;T)
Reference	Rs199470479(-;-)
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.76788987dupT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023482.4, RCV000128654.1,