rs199470478

Orientation

plus

Stabilized

plus

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

Make rs199470478(AAAAACCAAAA;AAAAACCAAAA)

Make rs199470478(AAAAACCAAAA;GAAAACCAG)

Reference

GRCh38.p2 38.2/144

Chromosome

10

Position

75029184

Gene	DUPD1, KAT6B

is a	snp
is	mentioned by
dbSNP	rs199470478
dbSNP (classic)	rs199470478
ClinGen	rs199470478
ebi	rs199470478
HLI	rs199470478
Exac	rs199470478
Gnomad	rs199470478
Varsome	rs199470478
LitVar	rs199470478
Map	rs199470478
PheGenI	rs199470478
Biobank	rs199470478
1000 genomes	rs199470478
hgdp	rs199470478
ensembl	rs199470478
geneview	rs199470478
scholar	rs199470478
google	rs199470478
pharmgkb	rs199470478
gwascentral	rs199470478
openSNP	rs199470478
23andMe	rs199470478
SNPshot	rs199470478
SNPdbe	rs199470478
MSV3d	rs199470478
GWAS Ctlg	rs199470478

Max Magnitude

0

ClinVar
Risk	rs199470478(AAAAACCAAAA;AAAAACCAAAA)
Alt	rs199470478(AAAAACCAAAA;AAAAACCAAAA)
Reference	Rs199470478(GAAAACCAG;GAAAACCAG)
Significance	Pathogenic
Disease	Genitopatellar syndrome not provided
Variation	info
Gene	KAT6B
CLNDBN	Genitopatellar syndrome not provided
Reversed	0
HGVS	NC_000010.10:g.76788942_76788950delGAAAACCAGinsAAAAACCAAAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023486.4, RCV000128653.1,