rs199470483

Orientation

plus

Stabilized

plus

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

Make rs199470483(-;CAAC)

Make rs199470483(CAAC;CAAC)

Reference

GRCh38.p2 38.2/144

Chromosome

10

Position

75030197

Gene	DUPD1, KAT6B

is a	snp
is	mentioned by
dbSNP	rs199470483
dbSNP (classic)	rs199470483
ClinGen	rs199470483
ebi	rs199470483
HLI	rs199470483
Exac	rs199470483
Gnomad	rs199470483
Varsome	rs199470483
LitVar	rs199470483
Map	rs199470483
PheGenI	rs199470483
Biobank	rs199470483
1000 genomes	rs199470483
hgdp	rs199470483
ensembl	rs199470483
geneview	rs199470483
scholar	rs199470483
google	rs199470483
pharmgkb	rs199470483
gwascentral	rs199470483
openSNP	rs199470483
23andMe	rs199470483
SNPshot	rs199470483
SNPdbe	rs199470483
MSV3d	rs199470483
GWAS Ctlg	rs199470483

Max Magnitude

0

ClinVar
Risk	rs199470483(CCAA;CCAA)
Alt	rs199470483(CCAA;CCAA)
Reference	Rs199470483(-;-)
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.76789952_76789955dupCAAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023483.6, RCV000128659.1,