rs387907364

Orientation

plus

Stabilized

plus

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

Make rs387907364(CACA;CACA)

Make rs387907364(CACA;TACTATGG)

Reference

GRCh38 38.1/141

Chromosome

10

Position

75029888

Gene	DUPD1, KAT6B

is a	snp
is	mentioned by
dbSNP	rs387907364
dbSNP (classic)	rs387907364
ClinGen	rs387907364
ebi	rs387907364
HLI	rs387907364
Exac	rs387907364
Gnomad	rs387907364
Varsome	rs387907364
LitVar	rs387907364
Map	rs387907364
PheGenI	rs387907364
Biobank	rs387907364
1000 genomes	rs387907364
hgdp	rs387907364
ensembl	rs387907364
geneview	rs387907364
scholar	rs387907364
google	rs387907364
pharmgkb	rs387907364
gwascentral	rs387907364
openSNP	rs387907364
23andMe	rs387907364
SNPshot	rs387907364
SNPdbe	rs387907364
MSV3d	rs387907364
GWAS Ctlg	rs387907364

Max Magnitude

0

ClinVar
Risk	rs387907364(CACA;CACA)
Alt	rs387907364(CACA;CACA)
Reference	Rs387907364(TACTATGG;TACTATGG)
Significance	Pathogenic
Disease	Young Simpson syndrome
Variation	info
Gene	KAT6B
CLNDBN	Young Simpson syndrome
Reversed	0
HGVS	NC_000010.10:g.76789646_76789653delTACTATGGinsCACA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000043511.4,