rs121908069

Orientation

plus

Stabilized

plus

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

Make rs121908069(C;C)

Make rs121908069(C;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

177293916

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs121908069
dbSNP (classic)	rs121908069
ClinGen	rs121908069
ebi	rs121908069
HLI	rs121908069
Exac	rs121908069
Gnomad	rs121908069
Varsome	rs121908069
LitVar	rs121908069
Map	rs121908069
PheGenI	rs121908069
Biobank	rs121908069
1000 genomes	rs121908069
hgdp	rs121908069
ensembl	rs121908069
geneview	rs121908069
scholar	rs121908069
google	rs121908069
pharmgkb	rs121908069
gwascentral	rs121908069
openSNP	rs121908069
23andMe	rs121908069
SNPshot	rs121908069
SNPdbe	rs121908069
MSV3d	rs121908069
GWAS Ctlg	rs121908069

Max Magnitude

0

OMIM	606681
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121908069(C;C)
Alt	rs121908069(C;C)
Reference	Rs121908069(G;G)
Significance	Pathogenic
Disease	Sotos syndrome 1
Variation	info
Gene	NSD1
CLNDBN	Sotos syndrome 1
Reversed	0
HGVS	NC_000005.9:g.176720917G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004356.5,