rs570278338

Orientation

plus

Stabilized

plus

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

Make rs570278338(C;G)

Make rs570278338(G;G)

Reference

GRCh38 38.1/142

Chromosome

5

Position

177246710

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs570278338
dbSNP (classic)	rs570278338
ClinGen	rs570278338
ebi	rs570278338
HLI	rs570278338
Exac	rs570278338
Gnomad	rs570278338
Varsome	rs570278338
LitVar	rs570278338
Map	rs570278338
PheGenI	rs570278338
Biobank	rs570278338
1000 genomes	rs570278338
hgdp	rs570278338
ensembl	rs570278338
geneview	rs570278338
scholar	rs570278338
google	rs570278338
pharmgkb	rs570278338
gwascentral	rs570278338
openSNP	rs570278338
23andMe	rs570278338
SNPshot	rs570278338
SNPdbe	rs570278338
MSV3d	rs570278338
GWAS Ctlg	rs570278338

Max Magnitude

0

ClinVar
Risk	rs570278338(G;G) rs570278338(T;T)
Alt	rs570278338(G;G) rs570278338(T;T)
Reference	Rs570278338(C;C)
Significance	Pathogenic
Disease	Sotos syndrome 1 Beckwith-Wiedemann syndrome
Variation	info
Gene	NSD1
CLNDBN	Sotos syndrome 1 Beckwith-Wiedemann syndrome
Reversed	0
HGVS	NC_000005.9:g.176673711C>T
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000146833.1, RCV000226841.1,