rs587784104

Orientation

plus

Stabilized

plus

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

Make rs587784104(-;-)

Make rs587784104(-;AG)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

177212058

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs587784104
dbSNP (classic)	rs587784104
ClinGen	rs587784104
ebi	rs587784104
HLI	rs587784104
Exac	rs587784104
Gnomad	rs587784104
Varsome	rs587784104
LitVar	rs587784104
Map	rs587784104
PheGenI	rs587784104
Biobank	rs587784104
1000 genomes	rs587784104
hgdp	rs587784104
ensembl	rs587784104
geneview	rs587784104
scholar	rs587784104
google	rs587784104
pharmgkb	rs587784104
gwascentral	rs587784104
openSNP	rs587784104
23andMe	rs587784104
SNPshot	rs587784104
SNPdbe	rs587784104
MSV3d	rs587784104
GWAS Ctlg	rs587784104

Max Magnitude

0

ClinVar
Risk	rs587784104(-;-)
Alt	rs587784104(-;-)
Reference	Rs587784104(AG;AG)
Significance	Pathogenic
Disease	Sotos syndrome 1 Beckwith-Wiedemann syndrome
Variation	info
Gene	NSD1
CLNDBN	Sotos syndrome 1 Beckwith-Wiedemann syndrome
Reversed	0
HGVS	NC_000005.9:g.176639059_176639060delAG
CLNSRC
CLNACC	RCV000146815.1, RCV000461609.1,