Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1060501494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501494(C;T)
Make rs1060501494(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position177293855
GeneNSD1
is asnp
is mentioned by
dbSNPrs1060501494
dbSNP (old)rs1060501494
ClinGenrs1060501494
ebirs1060501494
HLIrs1060501494
Exacrs1060501494
Gnomadrs1060501494
Varsomers1060501494
Maprs1060501494
PheGenIrs1060501494
Biobankrs1060501494
1000 genomesrs1060501494
hgdprs1060501494
ensemblrs1060501494
gopubmedrs1060501494
geneviewrs1060501494
scholarrs1060501494
googlers1060501494
pharmgkbrs1060501494
gwascentralrs1060501494
openSNPrs1060501494
23andMers1060501494
23andMe allrs1060501494
SNPshotrs1060501494
SNPdbers1060501494
MSV3drs1060501494
GWAS Ctlgrs1060501494
Max Magnitude0
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,