rs1060501497

Orientation

plus

Stabilized

plus

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

Make rs1060501497(-;-)

Make rs1060501497(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

177210053

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs1060501497
dbSNP (classic)	rs1060501497
ClinGen	rs1060501497
ebi	rs1060501497
HLI	rs1060501497
Exac	rs1060501497
Gnomad	rs1060501497
Varsome	rs1060501497
LitVar	rs1060501497
Map	rs1060501497
PheGenI	rs1060501497
Biobank	rs1060501497
1000 genomes	rs1060501497
hgdp	rs1060501497
ensembl	rs1060501497
geneview	rs1060501497
scholar	rs1060501497
google	rs1060501497
pharmgkb	rs1060501497
gwascentral	rs1060501497
openSNP	rs1060501497
23andMe	rs1060501497
SNPshot	rs1060501497
SNPdbe	rs1060501497
MSV3d	rs1060501497
GWAS Ctlg	rs1060501497

Max Magnitude

0

ClinVar
Risk	rs1060501497(-;-)
Alt	rs1060501497(-;-)
Reference	Rs1060501497(T;T)
Significance	Pathogenic
Disease	Beckwith-Wiedemann syndrome
Variation	info
Gene	NSD1
CLNDBN	Beckwith-Wiedemann syndrome
Reversed	0
HGVS	NC_000005.9:g.176637054delT
CLNSRC
CLNACC	RCV000461382.1,