rs397515548

Orientation

minus

Stabilized

minus

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

Make rs397515548(A;A)

Make rs397515548(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

148807669

Gene

EZH2

is a	snp
is	mentioned by
dbSNP	rs397515548
dbSNP (classic)	rs397515548
ClinGen	rs397515548
ebi	rs397515548
HLI	rs397515548
Exac	rs397515548
Gnomad	rs397515548
Varsome	rs397515548
LitVar	rs397515548
Map	rs397515548
PheGenI	rs397515548
Biobank	rs397515548
1000 genomes	rs397515548
hgdp	rs397515548
ensembl	rs397515548
geneview	rs397515548
scholar	rs397515548
google	rs397515548
pharmgkb	rs397515548
gwascentral	rs397515548
openSNP	rs397515548
23andMe	rs397515548
SNPshot	rs397515548
SNPdbe	rs397515548
MSV3d	rs397515548
GWAS Ctlg	rs397515548

Max Magnitude

0

ClinVar
Risk	rs397515548(A;A)
Alt	rs397515548(A;A)
Reference	Rs397515548(G;G)
Significance	Pathogenic
Disease	Weaver syndrome
Variation	info
Gene	EZH2
CLNDBN	Weaver syndrome
Reversed	1
HGVS	NC_000007.13:g.148504761C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055901.1,