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rs587784088

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784088(A;A)
Make rs587784088(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177211053
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784088
dbSNP (classic)rs587784088
ClinGenrs587784088
ebirs587784088
HLIrs587784088
Exacrs587784088
Gnomadrs587784088
Varsomers587784088
LitVarrs587784088
Maprs587784088
PheGenIrs587784088
Biobankrs587784088
1000 genomesrs587784088
hgdprs587784088
ensemblrs587784088
geneviewrs587784088
scholarrs587784088
googlers587784088
pharmgkbrs587784088
gwascentralrs587784088
openSNPrs587784088
23andMers587784088
SNPshotrs587784088
SNPdbers587784088
MSV3drs587784088
GWAS Ctlgrs587784088
Max Magnitude0
ClinVar
Risk rs587784088(A;A)
Alt rs587784088(A;A)
Reference Rs587784088(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176638054C>A
CLNSRC
CLNACC RCV000146790.1,