rs398124378

Orientation

plus

Stabilized

plus

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

Make rs398124378(A;G)

Make rs398124378(G;G)

Reference

GRCh38 38.1/142

Chromosome

5

Position

177257029

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs398124378
dbSNP (classic)	rs398124378
ClinGen	rs398124378
ebi	rs398124378
HLI	rs398124378
Exac	rs398124378
Gnomad	rs398124378
Varsome	rs398124378
LitVar	rs398124378
Map	rs398124378
PheGenI	rs398124378
Biobank	rs398124378
1000 genomes	rs398124378
hgdp	rs398124378
ensembl	rs398124378
geneview	rs398124378
scholar	rs398124378
google	rs398124378
pharmgkb	rs398124378
gwascentral	rs398124378
openSNP	rs398124378
23andMe	rs398124378
SNPshot	rs398124378
SNPdbe	rs398124378
MSV3d	rs398124378
GWAS Ctlg	rs398124378

Max Magnitude

0

ClinVar
Risk	rs398124378(C;C) rs398124378(G;G)
Alt	rs398124378(C;C) rs398124378(G;G)
Reference	Rs398124378(A;A)
Significance	Probable-Pathogenic
Disease	Sotos syndrome 1 not specified
Variation	info
Gene	NSD1
CLNDBN	Sotos syndrome 1 not specified
Reversed	0
HGVS	NC_000005.9:g.176684030A>C; NC_000005.9:g.176684030A>G
CLNSRC	ClinVar University of Chicago Emory University
CLNACC	RCV000146850.1, RCV000082125.4,