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rs797045823

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045823(-;GACT)
Make rs797045823(GACT;GACT)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177269708
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045823
ClinGenrs797045823
ebirs797045823
HLIrs797045823
Exacrs797045823
Varsomers797045823
Maprs797045823
PheGenIrs797045823
hapmaprs797045823
1000 genomesrs797045823
hgdprs797045823
ensemblrs797045823
gopubmedrs797045823
geneviewrs797045823
scholarrs797045823
googlers797045823
pharmgkbrs797045823
gwascentralrs797045823
openSNPrs797045823
23andMers797045823
23andMe allrs797045823
SNP Nexus

SNPshotrs797045823
SNPdbers797045823
MSV3drs797045823
GWAS Ctlgrs797045823
Max Magnitude0
ClinVar
Risk rs797045823(TGAC;TGAC)
Alt rs797045823(TGAC;TGAC)
Reference Rs797045823(;)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176696706_176696709dupGACT
CLNSRC
CLNACC RCV000195162.1,