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rs1060501497

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501497(-;-)
Make rs1060501497(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position177210053
GeneNSD1
is asnp
is mentioned by
dbSNPrs1060501497
dbSNP (old)rs1060501497
ClinGenrs1060501497
ebirs1060501497
HLIrs1060501497
Exacrs1060501497
Gnomadrs1060501497
Varsomers1060501497
LitVarrs1060501497
Maprs1060501497
PheGenIrs1060501497
Biobankrs1060501497
1000 genomesrs1060501497
hgdprs1060501497
ensemblrs1060501497
gopubmedrs1060501497
geneviewrs1060501497
scholarrs1060501497
googlers1060501497
pharmgkbrs1060501497
gwascentralrs1060501497
openSNPrs1060501497
23andMers1060501497
23andMe allrs1060501497
SNPshotrs1060501497
SNPdbers1060501497
MSV3drs1060501497
GWAS Ctlgrs1060501497
Max Magnitude0
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,