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rs587784180

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784180(C;C)
Make rs587784180(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177283857
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784180
ebirs587784180
HLIrs587784180
Exacrs587784180
Varsomers587784180
Maprs587784180
PheGenIrs587784180
hapmaprs587784180
1000 genomesrs587784180
hgdprs587784180
ensemblrs587784180
gopubmedrs587784180
geneviewrs587784180
scholarrs587784180
googlers587784180
pharmgkbrs587784180
gwascentralrs587784180
openSNPrs587784180
23andMers587784180
23andMe allrs587784180
SNP Nexus

SNPshotrs587784180
SNPdbers587784180
MSV3drs587784180
GWAS Ctlgrs587784180
Max Magnitude0
ClinVar
Risk rs587784180(C;C)
Alt rs587784180(C;C)
Reference rs587784180(G;G)
Significance Probable-Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176710858G>C
CLNSRC
CLNACC RCV000146909.1,