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rs797045821

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045821(-;AA)
Make rs797045821(AA;AA)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177257067
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045821
ClinGenrs797045821
ebirs797045821
HLIrs797045821
Exacrs797045821
Varsomers797045821
Maprs797045821
PheGenIrs797045821
hapmaprs797045821
1000 genomesrs797045821
hgdprs797045821
ensemblrs797045821
gopubmedrs797045821
geneviewrs797045821
scholarrs797045821
googlers797045821
pharmgkbrs797045821
gwascentralrs797045821
openSNPrs797045821
23andMers797045821
23andMe allrs797045821
SNP Nexus

SNPshotrs797045821
SNPdbers797045821
MSV3drs797045821
GWAS Ctlgrs797045821
Max Magnitude0
ClinVar
Risk rs797045821(AA;AA)
Alt rs797045821(AA;AA)
Reference Rs797045821(;)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176684068_176684069insAA
CLNSRC
CLNACC RCV000192716.1,