rs1060501493

Orientation

plus

Stabilized

plus

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

Make rs1060501493(C;G)

Make rs1060501493(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

177292121

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs1060501493
dbSNP (classic)	rs1060501493
ClinGen	rs1060501493
ebi	rs1060501493
HLI	rs1060501493
Exac	rs1060501493
Gnomad	rs1060501493
Varsome	rs1060501493
LitVar	rs1060501493
Map	rs1060501493
PheGenI	rs1060501493
Biobank	rs1060501493
1000 genomes	rs1060501493
hgdp	rs1060501493
ensembl	rs1060501493
geneview	rs1060501493
scholar	rs1060501493
google	rs1060501493
pharmgkb	rs1060501493
gwascentral	rs1060501493
openSNP	rs1060501493
23andMe	rs1060501493
SNPshot	rs1060501493
SNPdbe	rs1060501493
MSV3d	rs1060501493
GWAS Ctlg	rs1060501493

Max Magnitude

0

ClinVar
Risk	rs1060501493(G;G)
Alt	rs1060501493(G;G)
Reference	Rs1060501493(C;C)
Significance	Pathogenic
Disease	Beckwith-Wiedemann syndrome
Variation	info
Gene	NSD1
CLNDBN	Beckwith-Wiedemann syndrome
Reversed	0
HGVS	NC_000005.9:g.176719122C>G
CLNSRC
CLNACC	RCV000474368.1,