rs1060501498

Orientation

plus

Stabilized

plus

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

Make rs1060501498(C;C)

Make rs1060501498(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

177267691

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs1060501498
dbSNP (classic)	rs1060501498
ClinGen	rs1060501498
ebi	rs1060501498
HLI	rs1060501498
Exac	rs1060501498
Gnomad	rs1060501498
Varsome	rs1060501498
LitVar	rs1060501498
Map	rs1060501498
PheGenI	rs1060501498
Biobank	rs1060501498
1000 genomes	rs1060501498
hgdp	rs1060501498
ensembl	rs1060501498
geneview	rs1060501498
scholar	rs1060501498
google	rs1060501498
pharmgkb	rs1060501498
gwascentral	rs1060501498
openSNP	rs1060501498
23andMe	rs1060501498
SNPshot	rs1060501498
SNPdbe	rs1060501498
MSV3d	rs1060501498
GWAS Ctlg	rs1060501498

Max Magnitude

0

ClinVar
Risk	rs1060501498(C;C)
Alt	rs1060501498(C;C)
Reference	Rs1060501498(T;T)
Significance	Probable-Pathogenic
Disease	Beckwith-Wiedemann syndrome
Variation	info
Gene	NSD1
CLNDBN	Beckwith-Wiedemann syndrome
Reversed	0
HGVS	NC_000005.9:g.176694692T>C
CLNSRC
CLNACC	RCV000475915.1,