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rs587784084

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784084(C;G)
Make rs587784084(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177210675
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784084
dbSNP (classic)rs587784084
ClinGenrs587784084
ebirs587784084
HLIrs587784084
Exacrs587784084
Gnomadrs587784084
Varsomers587784084
LitVarrs587784084
Maprs587784084
PheGenIrs587784084
Biobankrs587784084
1000 genomesrs587784084
hgdprs587784084
ensemblrs587784084
geneviewrs587784084
scholarrs587784084
googlers587784084
pharmgkbrs587784084
gwascentralrs587784084
openSNPrs587784084
23andMers587784084
SNPshotrs587784084
SNPdbers587784084
MSV3drs587784084
GWAS Ctlgrs587784084
Max Magnitude0
ClinVar
Risk rs587784084(A;A) rs587784084(G;G)
Alt rs587784084(A;A) rs587784084(G;G)
Reference Rs587784084(C;C)
Significance Pathogenic
Disease not provided Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN not provided Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176637676C>A; NC_000005.9:g.176637676C>G
CLNSRC
CLNACC RCV000482855.1, RCV000146782.1,