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rs1060501493

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501493(C;G)
Make rs1060501493(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position177292121
GeneNSD1
is asnp
is mentioned by
dbSNPrs1060501493
dbSNP (old)rs1060501493
ClinGenrs1060501493
ebirs1060501493
HLIrs1060501493
Exacrs1060501493
Gnomadrs1060501493
Varsomers1060501493
LitVarrs1060501493
Maprs1060501493
PheGenIrs1060501493
Biobankrs1060501493
1000 genomesrs1060501493
hgdprs1060501493
ensemblrs1060501493
gopubmedrs1060501493
geneviewrs1060501493
scholarrs1060501493
googlers1060501493
pharmgkbrs1060501493
gwascentralrs1060501493
openSNPrs1060501493
23andMers1060501493
23andMe allrs1060501493
SNPshotrs1060501493
SNPdbers1060501493
MSV3drs1060501493
GWAS Ctlgrs1060501493
Max Magnitude0
ClinVar
Risk rs1060501493(G;G)
Alt rs1060501493(G;G)
Reference Rs1060501493(C;C)
Significance Pathogenic
Disease Beckwith-Wiedemann syndrome
Variation info
Gene NSD1
CLNDBN Beckwith-Wiedemann syndrome
Reversed 0
HGVS NC_000005.9:g.176719122C>G
CLNSRC
CLNACC RCV000474368.1,