rs121908071

Orientation

plus

Stabilized

plus

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

Make rs121908071(A;A)

Make rs121908071(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

177293973

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs121908071
dbSNP (classic)	rs121908071
ClinGen	rs121908071
ebi	rs121908071
HLI	rs121908071
Exac	rs121908071
Gnomad	rs121908071
Varsome	rs121908071
LitVar	rs121908071
Map	rs121908071
PheGenI	rs121908071
Biobank	rs121908071
1000 genomes	rs121908071
hgdp	rs121908071
ensembl	rs121908071
geneview	rs121908071
scholar	rs121908071
google	rs121908071
pharmgkb	rs121908071
gwascentral	rs121908071
openSNP	rs121908071
23andMe	rs121908071
SNPshot	rs121908071
SNPdbe	rs121908071
MSV3d	rs121908071
GWAS Ctlg	rs121908071

Max Magnitude

0

OMIM	606681
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121908071(A;A)
Alt	rs121908071(A;A)
Reference	Rs121908071(G;G)
Significance	Pathogenic
Disease	Sotos syndrome 1
Variation	info
Gene	NSD1
CLNDBN	Sotos syndrome 1
Reversed	0
HGVS	NC_000005.9:g.176720974G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004362.3,