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rs587784128

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784128(A;A)
Make rs587784128(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177257040
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784128
ebirs587784128
HLIrs587784128
Exacrs587784128
Varsomers587784128
Maprs587784128
PheGenIrs587784128
hapmaprs587784128
1000 genomesrs587784128
hgdprs587784128
ensemblrs587784128
gopubmedrs587784128
geneviewrs587784128
scholarrs587784128
googlers587784128
pharmgkbrs587784128
gwascentralrs587784128
openSNPrs587784128
23andMers587784128
23andMe allrs587784128
SNP Nexus

SNPshotrs587784128
SNPdbers587784128
MSV3drs587784128
GWAS Ctlgrs587784128
Max Magnitude0
ClinVar
Risk rs587784128(A,G;A,G)
Alt rs587784128(A,G;A,G)
Reference rs587784128(T;T)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176684041T>A; NC_000005.9:g.176684041T>G
CLNSRC
CLNACC RCV000146851.1, RCV000146852.1,