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rs587784204

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784204(A;C)
Make rs587784204(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177293853
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784204
dbSNP (classic)rs587784204
ClinGenrs587784204
ebirs587784204
HLIrs587784204
Exacrs587784204
Gnomadrs587784204
Varsomers587784204
LitVarrs587784204
Maprs587784204
PheGenIrs587784204
Biobankrs587784204
1000 genomesrs587784204
hgdprs587784204
ensemblrs587784204
geneviewrs587784204
scholarrs587784204
googlers587784204
pharmgkbrs587784204
gwascentralrs587784204
openSNPrs587784204
23andMers587784204
SNPshotrs587784204
SNPdbers587784204
MSV3drs587784204
GWAS Ctlgrs587784204
Max Magnitude0
ClinVar
Risk rs587784204(C;C)
Alt rs587784204(C;C)
Reference Rs587784204(A;A)
Significance Probable-Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176720854A>C
CLNSRC
CLNACC RCV000146935.1,