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rs587784169

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784169(A;A)
Make rs587784169(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177282523
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784169
dbSNP (classic)rs587784169
ClinGenrs587784169
ebirs587784169
HLIrs587784169
Exacrs587784169
Gnomadrs587784169
Varsomers587784169
LitVarrs587784169
Maprs587784169
PheGenIrs587784169
Biobankrs587784169
1000 genomesrs587784169
hgdprs587784169
ensemblrs587784169
geneviewrs587784169
scholarrs587784169
googlers587784169
pharmgkbrs587784169
gwascentralrs587784169
openSNPrs587784169
23andMers587784169
SNPshotrs587784169
SNPdbers587784169
MSV3drs587784169
GWAS Ctlgrs587784169
Max Magnitude0
ClinVar
Risk rs587784169(A;A) rs587784169(C;C)
Alt rs587784169(A;A) rs587784169(C;C)
Reference Rs587784169(G;G)
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.176709524G>A; NC_000005.9:g.176709524G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000146898.1, RCV000405920.1, RCV000489406.1,