rs199470472

Orientation

plus

Stabilized

plus

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

Make rs199470472(-;-)

Make rs199470472(-;AA)

Reference

GRCh38.p2 38.2/144

Chromosome

10

Position

75028612

Gene	DUPD1, KAT6B

is a	snp
is	mentioned by
dbSNP	rs199470472
dbSNP (classic)	rs199470472
ClinGen	rs199470472
ebi	rs199470472
HLI	rs199470472
Exac	rs199470472
Gnomad	rs199470472
Varsome	rs199470472
LitVar	rs199470472
Map	rs199470472
PheGenI	rs199470472
Biobank	rs199470472
1000 genomes	rs199470472
hgdp	rs199470472
ensembl	rs199470472
geneview	rs199470472
scholar	rs199470472
google	rs199470472
pharmgkb	rs199470472
gwascentral	rs199470472
openSNP	rs199470472
23andMe	rs199470472
SNPshot	rs199470472
SNPdbe	rs199470472
MSV3d	rs199470472
GWAS Ctlg	rs199470472

Max Magnitude

0

ClinVar
Risk	rs199470472(-;-)
Alt	rs199470472(-;-)
Reference	Rs199470472(AA;AA)
Significance	Pathogenic
Disease	Genitopatellar syndrome not provided
Variation	info
Gene	KAT6B
CLNDBN	Genitopatellar syndrome not provided
Reversed	0
HGVS	NC_000010.10:g.76788370_76788371delAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023488.5, RCV000128647.1,