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rs587784175

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784175(C;C)
Make rs587784175(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177283820
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784175
ebirs587784175
HLIrs587784175
Exacrs587784175
Varsomers587784175
Maprs587784175
PheGenIrs587784175
hapmaprs587784175
1000 genomesrs587784175
hgdprs587784175
ensemblrs587784175
gopubmedrs587784175
geneviewrs587784175
scholarrs587784175
googlers587784175
pharmgkbrs587784175
gwascentralrs587784175
openSNPrs587784175
23andMers587784175
23andMe allrs587784175
SNP Nexus

SNPshotrs587784175
SNPdbers587784175
MSV3drs587784175
GWAS Ctlgrs587784175
Max Magnitude0
ClinVar
Risk rs587784175(C;C)
Alt rs587784175(C;C)
Reference rs587784175(T;T)
Significance Probable-Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176710821T>C
CLNSRC
CLNACC RCV000146904.1,