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rs1060501490

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGGTG;AGGTG) 0 common in clinvar
Make rs1060501490(-;-)
Make rs1060501490(-;TGAGG)
Make rs1060501490(TGAGG;TGAGG)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position177211018
GeneNSD1
is asnp
is mentioned by
dbSNPrs1060501490
dbSNP (classic)rs1060501490
ClinGenrs1060501490
ebirs1060501490
HLIrs1060501490
Exacrs1060501490
Gnomadrs1060501490
Varsomers1060501490
LitVarrs1060501490
Maprs1060501490
PheGenIrs1060501490
Biobankrs1060501490
1000 genomesrs1060501490
hgdprs1060501490
ensemblrs1060501490
geneviewrs1060501490
scholarrs1060501490
googlers1060501490
pharmgkbrs1060501490
gwascentralrs1060501490
openSNPrs1060501490
23andMers1060501490
23andMe allrs1060501490
SNPshotrs1060501490
SNPdbers1060501490
MSV3drs1060501490
GWAS Ctlgrs1060501490
Max Magnitude0
ClinVar
Risk rs1060501490(-;-)
Alt rs1060501490(-;-)
Reference Rs1060501490(AGGTG;AGGTG)
Significance Pathogenic
Disease Beckwith-Wiedemann syndrome
Variation info
Gene NSD1
CLNDBN Beckwith-Wiedemann syndrome
Reversed 0
HGVS NC_000005.9:g.176638019_176638023delTGAGG
CLNSRC
CLNACC RCV000463366.1,