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rs587784080

From SNPedia

Orientationplus
Geno Mag Summary
(AAGAT;AAGAT) 0 common in clinvar
Make rs587784080(-;-)
Make rs587784080(-;GATAA)
Make rs587784080(GATAA;GATAA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177210448
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784080
ebirs587784080
HLIrs587784080
Exacrs587784080
Varsomers587784080
Maprs587784080
PheGenIrs587784080
hapmaprs587784080
1000 genomesrs587784080
hgdprs587784080
ensemblrs587784080
gopubmedrs587784080
geneviewrs587784080
scholarrs587784080
googlers587784080
pharmgkbrs587784080
gwascentralrs587784080
openSNPrs587784080
23andMers587784080
23andMe allrs587784080
SNP Nexus

SNPshotrs587784080
SNPdbers587784080
MSV3drs587784080
GWAS Ctlgrs587784080
Max Magnitude0
ClinVar
Risk rs587784080(;)
Alt rs587784080(;)
Reference rs587784080(AAGAT;AAGAT)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176637449_176637453delGATAA
CLNSRC
CLNACC RCV000146776.1,