rs587784193

Orientation

plus

Stabilized

plus

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

Make rs587784193(A;T)

Make rs587784193(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

177292072

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs587784193
dbSNP (classic)	rs587784193
ClinGen	rs587784193
ebi	rs587784193
HLI	rs587784193
Exac	rs587784193
Gnomad	rs587784193
Varsome	rs587784193
LitVar	rs587784193
Map	rs587784193
PheGenI	rs587784193
Biobank	rs587784193
1000 genomes	rs587784193
hgdp	rs587784193
ensembl	rs587784193
geneview	rs587784193
scholar	rs587784193
google	rs587784193
pharmgkb	rs587784193
gwascentral	rs587784193
openSNP	rs587784193
23andMe	rs587784193
SNPshot	rs587784193
SNPdbe	rs587784193
MSV3d	rs587784193
GWAS Ctlg	rs587784193

Max Magnitude

0

ClinVar
Risk	rs587784193(T;T)
Alt	rs587784193(T;T)
Reference	Rs587784193(A;A)
Significance	Pathogenic
Disease	Sotos syndrome 1
Variation	info
Gene	NSD1
CLNDBN	Sotos syndrome 1
Reversed	0
HGVS	NC_000005.9:g.176719073A>T
CLNSRC
CLNACC	RCV000146923.1,