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rs1060501492

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs1060501492(-;-)
Make rs1060501492(-;GA)
Make rs1060501492(GA;GA)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position177135983
GeneNSD1
is asnp
is mentioned by
dbSNPrs1060501492
dbSNP (old)rs1060501492
ClinGenrs1060501492
ebirs1060501492
HLIrs1060501492
Exacrs1060501492
Gnomadrs1060501492
Varsomers1060501492
LitVarrs1060501492
Maprs1060501492
PheGenIrs1060501492
Biobankrs1060501492
1000 genomesrs1060501492
hgdprs1060501492
ensemblrs1060501492
gopubmedrs1060501492
geneviewrs1060501492
scholarrs1060501492
googlers1060501492
pharmgkbrs1060501492
gwascentralrs1060501492
openSNPrs1060501492
23andMers1060501492
23andMe allrs1060501492
SNPshotrs1060501492
SNPdbers1060501492
MSV3drs1060501492
GWAS Ctlgrs1060501492
Max Magnitude0
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,