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rs797045820

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045820(-;A)
Make rs797045820(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177251820
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045820
dbSNP (classic)rs797045820
ClinGenrs797045820
ebirs797045820
HLIrs797045820
Exacrs797045820
Gnomadrs797045820
Varsomers797045820
LitVarrs797045820
Maprs797045820
PheGenIrs797045820
Biobankrs797045820
1000 genomesrs797045820
hgdprs797045820
ensemblrs797045820
geneviewrs797045820
scholarrs797045820
googlers797045820
pharmgkbrs797045820
gwascentralrs797045820
openSNPrs797045820
23andMers797045820
SNPshotrs797045820
SNPdbers797045820
MSV3drs797045820
GWAS Ctlgrs797045820
Max Magnitude0
ClinVar
Risk rs797045820(A;A)
Alt rs797045820(A;A)
Reference Rs797045820(-;-)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176678821dupA
CLNSRC
CLNACC RCV000194867.1,