rs201327209

Orientation

plus

Stabilized

plus

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

Make rs201327209(C;T)

Make rs201327209(T;T)

Reference

GRCh38 38.1/142

Chromosome

5

Position

177210738

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs201327209
dbSNP (classic)	rs201327209
ClinGen	rs201327209
ebi	rs201327209
HLI	rs201327209
Exac	rs201327209
Gnomad	rs201327209
Varsome	rs201327209
LitVar	rs201327209
Map	rs201327209
PheGenI	rs201327209
Biobank	rs201327209
1000 genomes	rs201327209
hgdp	rs201327209
ensembl	rs201327209
geneview	rs201327209
scholar	rs201327209
google	rs201327209
pharmgkb	rs201327209
gwascentral	rs201327209
openSNP	rs201327209
23andMe	rs201327209
SNPshot	rs201327209
SNPdbe	rs201327209
MSV3d	rs201327209
GWAS Ctlg	rs201327209

Max Magnitude

0

ClinVar
Risk	rs201327209(A;A) rs201327209(T;T)
Alt	rs201327209(A;A) rs201327209(T;T)
Reference	Rs201327209(C;C)
Significance	Pathogenic
Disease	Sotos syndrome 1 Beckwith-Wiedemann syndrome Weaver syndrome Sotos Syndrome
Variation	info
Gene	NSD1
CLNDBN	Sotos syndrome 1 Beckwith-Wiedemann syndrome Weaver syndrome Sotos Syndrome
Reversed	0
HGVS	NC_000005.9:g.176637739C>A; NC_000005.9:g.176637739C>T
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000146785.1, RCV000226162.1, RCV000290930.1, RCV000385264.1,