rs199470469

Orientation

plus

Stabilized

plus

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

Make rs199470469(-;-)

Make rs199470469(-;ATTCAAGTAACTTGAA)

Reference

GRCh38.p2 38.2/144

Chromosome

10

Position

75028504

Gene	DUPD1, KAT6B

is a	snp
is	mentioned by
dbSNP	rs199470469
dbSNP (classic)	rs199470469
ClinGen	rs199470469
ebi	rs199470469
HLI	rs199470469
Exac	rs199470469
Gnomad	rs199470469
Varsome	rs199470469
LitVar	rs199470469
Map	rs199470469
PheGenI	rs199470469
Biobank	rs199470469
1000 genomes	rs199470469
hgdp	rs199470469
ensembl	rs199470469
geneview	rs199470469
scholar	rs199470469
google	rs199470469
pharmgkb	rs199470469
gwascentral	rs199470469
openSNP	rs199470469
23andMe	rs199470469
SNPshot	rs199470469
SNPdbe	rs199470469
MSV3d	rs199470469
GWAS Ctlg	rs199470469

Merged from

Rs724159987

Max Magnitude

0

ClinVar
Risk	rs199470469(-;-) rs199470469(TTCAAGTAACTTGAAA;TTCAAGTAACTTGAAA)
Alt	rs199470469(-;-) rs199470469(TTCAAGTAACTTGAAA;TTCAAGTAACTTGAAA)
Reference	Rs199470469(ATTCAAGTAACTTGAA;ATTCAAGTAACTTGAA)
Significance	Pathogenic
Disease	Genitopatellar syndrome not provided
Variation	info
Gene	KAT6B
CLNDBN	Genitopatellar syndrome not provided
Reversed	0
HGVS	NC_000010.10:g.76788263_76788278del16
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023491.4, RCV000128644.1,