rs398124379

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(I;I)	0	common genotype
(TCTG;TCTG)	0	common in clinvar
(TGTC;TGTC)	0	common in clinvar

Make rs398124379(-;-)

Make rs398124379(-;TCTG)

Reference

GRCh38 38.1/141

Chromosome

5

Position

177267694

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs398124379
dbSNP (classic)	rs398124379
ClinGen	rs398124379
ebi	rs398124379
HLI	rs398124379
Exac	rs398124379
Gnomad	rs398124379
Varsome	rs398124379
LitVar	rs398124379
Map	rs398124379
PheGenI	rs398124379
Biobank	rs398124379
1000 genomes	rs398124379
hgdp	rs398124379
ensembl	rs398124379
geneview	rs398124379
scholar	rs398124379
google	rs398124379
pharmgkb	rs398124379
gwascentral	rs398124379
openSNP	rs398124379
23andMe	rs398124379
SNPshot	rs398124379
SNPdbe	rs398124379
MSV3d	rs398124379
GWAS Ctlg	rs398124379

Max Magnitude

0

ClinVar
Risk	rs398124379(-;-)
Alt	rs398124379(-;-)
Reference	Rs398124379(TGTC;TGTC)
Significance	Pathogenic
Disease	not provided Sotos syndrome 1
Variation	info
Gene	NSD1
CLNDBN	not provided Sotos syndrome 1
Reversed	0
HGVS	NC_000005.9:g.176694695_176694698delTCTG
CLNSRC	HGMD
CLNACC	RCV000082127.3, RCV000146867.2,