rs1060501494

Orientation

plus

Stabilized

plus

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

Make rs1060501494(C;T)

Make rs1060501494(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

177293855

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs1060501494
dbSNP (classic)	rs1060501494
ClinGen	rs1060501494
ebi	rs1060501494
HLI	rs1060501494
Exac	rs1060501494
Gnomad	rs1060501494
Varsome	rs1060501494
LitVar	rs1060501494
Map	rs1060501494
PheGenI	rs1060501494
Biobank	rs1060501494
1000 genomes	rs1060501494
hgdp	rs1060501494
ensembl	rs1060501494
geneview	rs1060501494
scholar	rs1060501494
google	rs1060501494
pharmgkb	rs1060501494
gwascentral	rs1060501494
openSNP	rs1060501494
23andMe	rs1060501494
SNPshot	rs1060501494
SNPdbe	rs1060501494
MSV3d	rs1060501494
GWAS Ctlg	rs1060501494

Max Magnitude

0

ClinVar
Risk	rs1060501494(T;T)
Alt	rs1060501494(T;T)
Reference	Rs1060501494(C;C)
Significance	Pathogenic
Disease	Beckwith-Wiedemann syndrome
Variation	info
Gene	NSD1
CLNDBN	Beckwith-Wiedemann syndrome
Reversed	0
HGVS	NC_000005.9:g.176720856C>T
CLNSRC
CLNACC	RCV000457232.1,