rs797045819

Orientation

plus

Stabilized

plus

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

Make rs797045819(-;AGAGATTCCA)

Make rs797045819(AGAGATTCCA;AGAGATTCCA)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

177246787

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs797045819
dbSNP (classic)	rs797045819
ClinGen	rs797045819
ebi	rs797045819
HLI	rs797045819
Exac	rs797045819
Gnomad	rs797045819
Varsome	rs797045819
LitVar	rs797045819
Map	rs797045819
PheGenI	rs797045819
Biobank	rs797045819
1000 genomes	rs797045819
hgdp	rs797045819
ensembl	rs797045819
geneview	rs797045819
scholar	rs797045819
google	rs797045819
pharmgkb	rs797045819
gwascentral	rs797045819
openSNP	rs797045819
23andMe	rs797045819
SNPshot	rs797045819
SNPdbe	rs797045819
MSV3d	rs797045819
GWAS Ctlg	rs797045819

Max Magnitude

0

ClinVar
Risk	rs797045819(AAGAGATTCC;AAGAGATTCC)
Alt	rs797045819(AAGAGATTCC;AAGAGATTCC)
Reference	Rs797045819(-;-)
Significance	Pathogenic
Disease	Sotos syndrome 1
Variation	info
Gene	NSD1
CLNDBN	Sotos syndrome 1
Reversed	0
HGVS	NC_000005.9:g.176673779_176673788dupAGAGATTCCA
CLNSRC
CLNACC	RCV000192768.1,