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rs797045830

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045830(-;TGTGC)
Make rs797045830(TGTGC;TGTGC)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177292002
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045830
ClinGenrs797045830
ebirs797045830
HLIrs797045830
Exacrs797045830
Varsomers797045830
Maprs797045830
PheGenIrs797045830
hapmaprs797045830
1000 genomesrs797045830
hgdprs797045830
ensemblrs797045830
gopubmedrs797045830
geneviewrs797045830
scholarrs797045830
googlers797045830
pharmgkbrs797045830
gwascentralrs797045830
openSNPrs797045830
23andMers797045830
23andMe allrs797045830
SNP Nexus

SNPshotrs797045830
SNPdbers797045830
MSV3drs797045830
GWAS Ctlgrs797045830
Max Magnitude0
ClinVar
Risk rs797045830(GCTGT;GCTGT)
Alt rs797045830(GCTGT;GCTGT)
Reference Rs797045830(-;-)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176719003_176719004insTGTGC
CLNSRC
CLNACC RCV000193221.1,