rs398124383

Orientation

plus

Stabilized

plus

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

Make rs398124383(-;C)

Make rs398124383(C;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

177293906

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs398124383
dbSNP (classic)	rs398124383
ClinGen	rs398124383
ebi	rs398124383
HLI	rs398124383
Exac	rs398124383
Gnomad	rs398124383
Varsome	rs398124383
LitVar	rs398124383
Map	rs398124383
PheGenI	rs398124383
Biobank	rs398124383
1000 genomes	rs398124383
hgdp	rs398124383
ensembl	rs398124383
geneview	rs398124383
scholar	rs398124383
google	rs398124383
pharmgkb	rs398124383
gwascentral	rs398124383
openSNP	rs398124383
23andMe	rs398124383
SNPshot	rs398124383
SNPdbe	rs398124383
MSV3d	rs398124383
GWAS Ctlg	rs398124383

Max Magnitude

0

ClinVar
Risk	rs398124383(C;C)
Alt	rs398124383(C;C)
Reference	Rs398124383(-;-)
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.176720907_176720908insC
CLNSRC	ClinVar
CLNACC	RCV000082134.3, RCV000176424.1,