rs78247455

Orientation

plus

Stabilized

plus

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

Make rs78247455(A;A)

Make rs78247455(A;G)

Reference

GRCh38.p7 38.3/149

Chromosome

5

Position

177295004

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs78247455
dbSNP (classic)	rs78247455
ClinGen	rs78247455
ebi	rs78247455
HLI	rs78247455
Exac	rs78247455
Gnomad	rs78247455
Varsome	rs78247455
LitVar	rs78247455
Map	rs78247455
PheGenI	rs78247455
Biobank	rs78247455
1000 genomes	rs78247455
hgdp	rs78247455
ensembl	rs78247455
geneview	rs78247455
scholar	rs78247455
google	rs78247455
pharmgkb	rs78247455
gwascentral	rs78247455
openSNP	rs78247455
23andMe	rs78247455
SNPshot	rs78247455
SNPdbe	rs78247455
MSV3d	rs78247455
GWAS Ctlg	rs78247455

Max Magnitude

0

[PMID 28146470] Rare and low-frequency coding variants alter human adult height.

ClinVar
Risk	rs78247455(A;A)
Alt	rs78247455(A;A)
Reference	Rs78247455(G;G)
Significance	Probable-non-pathogenic
Disease	not specified Sotos Syndrome Weaver syndrome Beckwith-Wiedemann syndrome
Variation	info
Gene	NSD1
CLNDBN	not specified Sotos Syndrome Weaver syndrome Beckwith-Wiedemann syndrome
Reversed	0
HGVS	NC_000005.9:g.176722005G>A
CLNSRC
CLNACC	RCV000082144.6, RCV000302056.1, RCV000403320.1, RCV000469381.1,