rs1060501492

Orientation

plus

Stabilized

plus

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

Make rs1060501492(-;-)

Make rs1060501492(-;GA)

Make rs1060501492(GA;GA)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

177135983

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs1060501492
dbSNP (classic)	rs1060501492
ClinGen	rs1060501492
ebi	rs1060501492
HLI	rs1060501492
Exac	rs1060501492
Gnomad	rs1060501492
Varsome	rs1060501492
LitVar	rs1060501492
Map	rs1060501492
PheGenI	rs1060501492
Biobank	rs1060501492
1000 genomes	rs1060501492
hgdp	rs1060501492
ensembl	rs1060501492
geneview	rs1060501492
scholar	rs1060501492
google	rs1060501492
pharmgkb	rs1060501492
gwascentral	rs1060501492
openSNP	rs1060501492
23andMe	rs1060501492
SNPshot	rs1060501492
SNPdbe	rs1060501492
MSV3d	rs1060501492
GWAS Ctlg	rs1060501492

Max Magnitude

0

ClinVar
Risk	rs1060501492(-;-)
Alt	rs1060501492(-;-)
Reference	Rs1060501492(AG;AG)
Significance	Pathogenic
Disease	Beckwith-Wiedemann syndrome
Variation	info
Gene	NSD1
CLNDBN	Beckwith-Wiedemann syndrome
Reversed	0
HGVS	NC_000005.9:g.176562984_176562985delGA
CLNSRC
CLNACC	RCV000465172.1,