rs1057516048

Orientation

plus

Stabilized

plus

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

Make rs1057516048(A;T)

Make rs1057516048(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

177283796

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs1057516048
dbSNP (classic)	rs1057516048
ClinGen	rs1057516048
ebi	rs1057516048
HLI	rs1057516048
Exac	rs1057516048
Gnomad	rs1057516048
Varsome	rs1057516048
LitVar	rs1057516048
Map	rs1057516048
PheGenI	rs1057516048
Biobank	rs1057516048
1000 genomes	rs1057516048
hgdp	rs1057516048
ensembl	rs1057516048
geneview	rs1057516048
scholar	rs1057516048
google	rs1057516048
pharmgkb	rs1057516048
gwascentral	rs1057516048
openSNP	rs1057516048
23andMe	rs1057516048
SNPshot	rs1057516048
SNPdbe	rs1057516048
MSV3d	rs1057516048
GWAS Ctlg	rs1057516048

Max Magnitude

0

ClinVar
Risk	rs1057516048(T;T)
Alt	rs1057516048(T;T)
Reference	Rs1057516048(A;A)
Significance	Probable-Pathogenic
Disease	Sotos syndrome 1
Variation	info
Gene	NSD1
CLNDBN	Sotos syndrome 1
Reversed	0
HGVS	NC_000005.9:g.176710797A>T
CLNSRC
CLNACC	RCV000408632.1,