rs797045057

Orientation

plus

Stabilized

plus

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

Make rs797045057(C;T)

Make rs797045057(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

177282522

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs797045057
dbSNP (classic)	rs797045057
ClinGen	rs797045057
ebi	rs797045057
HLI	rs797045057
Exac	rs797045057
Gnomad	rs797045057
Varsome	rs797045057
LitVar	rs797045057
Map	rs797045057
PheGenI	rs797045057
Biobank	rs797045057
1000 genomes	rs797045057
hgdp	rs797045057
ensembl	rs797045057
geneview	rs797045057
scholar	rs797045057
google	rs797045057
pharmgkb	rs797045057
gwascentral	rs797045057
openSNP	rs797045057
23andMe	rs797045057
SNPshot	rs797045057
SNPdbe	rs797045057
MSV3d	rs797045057
GWAS Ctlg	rs797045057

Max Magnitude

0

ClinVar
Risk	rs797045057(T;T)
Alt	rs797045057(T;T)
Reference	Rs797045057(C;C)
Significance	Pathogenic
Disease	Sotos syndrome 1
Variation	info
Gene	NSD1
CLNDBN	Sotos syndrome 1
Reversed	0
HGVS	NC_000005.9:g.176709523C>T
CLNSRC	Baylor College of Medicine
CLNACC	RCV000191111.1,