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rs797045827

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045827(-;A)
Make rs797045827(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177283889
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045827
dbSNP (classic)rs797045827
ClinGenrs797045827
ebirs797045827
HLIrs797045827
Exacrs797045827
Gnomadrs797045827
Varsomers797045827
LitVarrs797045827
Maprs797045827
PheGenIrs797045827
Biobankrs797045827
1000 genomesrs797045827
hgdprs797045827
ensemblrs797045827
geneviewrs797045827
scholarrs797045827
googlers797045827
pharmgkbrs797045827
gwascentralrs797045827
openSNPrs797045827
23andMers797045827
SNPshotrs797045827
SNPdbers797045827
MSV3drs797045827
GWAS Ctlgrs797045827
Max Magnitude0
ClinVar
Risk rs797045827(A;A)
Alt rs797045827(A;A)
Reference Rs797045827(-;-)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176710890dupA
CLNSRC
CLNACC RCV000193313.1,