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rs797045818

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(D;D) 0 common genotype
Make rs797045818(-;A)
Make rs797045818(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177239864
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045818
dbSNP (classic)rs797045818
ClinGenrs797045818
ebirs797045818
HLIrs797045818
Exacrs797045818
Gnomadrs797045818
Varsomers797045818
LitVarrs797045818
Maprs797045818
PheGenIrs797045818
Biobankrs797045818
1000 genomesrs797045818
hgdprs797045818
ensemblrs797045818
geneviewrs797045818
scholarrs797045818
googlers797045818
pharmgkbrs797045818
gwascentralrs797045818
openSNPrs797045818
23andMers797045818
SNPshotrs797045818
SNPdbers797045818
MSV3drs797045818
GWAS Ctlgrs797045818
Max Magnitude0
ClinVar
Risk rs797045818(A;A)
Alt rs797045818(A;A)
Reference Rs797045818(-;-)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176666865dupA
CLNSRC
CLNACC RCV000194568.1,