rs587784118

Orientation

plus

Stabilized

plus

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

Make rs587784118(C;T)

Make rs587784118(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

177246743

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs587784118
dbSNP (classic)	rs587784118
ClinGen	rs587784118
ebi	rs587784118
HLI	rs587784118
Exac	rs587784118
Gnomad	rs587784118
Varsome	rs587784118
LitVar	rs587784118
Map	rs587784118
PheGenI	rs587784118
Biobank	rs587784118
1000 genomes	rs587784118
hgdp	rs587784118
ensembl	rs587784118
geneview	rs587784118
scholar	rs587784118
google	rs587784118
pharmgkb	rs587784118
gwascentral	rs587784118
openSNP	rs587784118
23andMe	rs587784118
SNPshot	rs587784118
SNPdbe	rs587784118
MSV3d	rs587784118
GWAS Ctlg	rs587784118

Max Magnitude

0

ClinVar
Risk	rs587784118(T;T)
Alt	rs587784118(T;T)
Reference	Rs587784118(C;C)
Significance	Pathogenic
Disease	Sotos syndrome 1
Variation	info
Gene	NSD1
CLNDBN	Sotos syndrome 1
Reversed	0
HGVS	NC_000005.9:g.176673744C>T
CLNSRC
CLNACC	RCV000146835.1,