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rs587784112

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784112(-;-)
Make rs587784112(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177239864
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784112
dbSNP (classic)rs587784112
ClinGenrs587784112
ebirs587784112
HLIrs587784112
Exacrs587784112
Gnomadrs587784112
Varsomers587784112
LitVarrs587784112
Maprs587784112
PheGenIrs587784112
Biobankrs587784112
1000 genomesrs587784112
hgdprs587784112
ensemblrs587784112
geneviewrs587784112
scholarrs587784112
googlers587784112
pharmgkbrs587784112
gwascentralrs587784112
openSNPrs587784112
23andMers587784112
SNPshotrs587784112
SNPdbers587784112
MSV3drs587784112
GWAS Ctlgrs587784112
Max Magnitude0
ClinVar
Risk rs587784112(-;-)
Alt rs587784112(-;-)
Reference Rs587784112(A;A)
Significance Pathogenic
Disease Sotos syndrome 1 not provided
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1 not provided
Reversed 0
HGVS NC_000005.9:g.176666865delA
CLNSRC
CLNACC RCV000146827.1, RCV000294038.1,