rs794727930

Orientation

plus

Stabilized

plus

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

Make rs794727930(-;-)

Make rs794727930(-;GAAA)

Make rs794727930(GAAA;GAAA)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

177239780

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs794727930
dbSNP (classic)	rs794727930
ClinGen	rs794727930
ebi	rs794727930
HLI	rs794727930
Exac	rs794727930
Gnomad	rs794727930
Varsome	rs794727930
LitVar	rs794727930
Map	rs794727930
PheGenI	rs794727930
Biobank	rs794727930
1000 genomes	rs794727930
hgdp	rs794727930
ensembl	rs794727930
geneview	rs794727930
scholar	rs794727930
google	rs794727930
pharmgkb	rs794727930
gwascentral	rs794727930
openSNP	rs794727930
23andMe	rs794727930
SNPshot	rs794727930
SNPdbe	rs794727930
MSV3d	rs794727930
GWAS Ctlg	rs794727930

Max Magnitude

0

ClinVar
Risk	rs794727930(-;-)
Alt	rs794727930(-;-)
Reference	Rs794727930(AAAG;AAAG)
Significance	Pathogenic
Disease	Sotos syndrome 1
Variation	info
Gene	NSD1
CLNDBN	Sotos syndrome 1
Reversed	0
HGVS	NC_000005.9:g.176666781_176666784delGAAA
CLNSRC
CLNACC	RCV000180364.1,