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rs587784103

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTGAC;GTGAC) 0 common in clinvar
(I;I) 0 common genotype
Make rs587784103(-;-)
Make rs587784103(-;GTGAC)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177211977
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784103
dbSNP (classic)rs587784103
ClinGenrs587784103
ebirs587784103
HLIrs587784103
Exacrs587784103
Gnomadrs587784103
Varsomers587784103
LitVarrs587784103
Maprs587784103
PheGenIrs587784103
Biobankrs587784103
1000 genomesrs587784103
hgdprs587784103
ensemblrs587784103
geneviewrs587784103
scholarrs587784103
googlers587784103
pharmgkbrs587784103
gwascentralrs587784103
openSNPrs587784103
23andMers587784103
SNPshotrs587784103
SNPdbers587784103
MSV3drs587784103
GWAS Ctlgrs587784103
Max Magnitude0
ClinVar
Risk rs587784103(-;-)
Alt rs587784103(-;-)
Reference Rs587784103(GTGAC;GTGAC)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176638978_176638982delGTGAC
CLNSRC
CLNACC RCV000146814.1,