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rs398124379

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCTG;TCTG) 0 common in clinvar
(TGTC;TGTC) 0 common in clinvar
Make rs398124379(-;-)
Make rs398124379(-;TCTG)
ReferenceGRCh38 38.1/141
Chromosome5
Position177267694
GeneNSD1
is asnp
is mentioned by
dbSNPrs398124379
ebirs398124379
HLIrs398124379
Exacrs398124379
Varsomers398124379
Maprs398124379
PheGenIrs398124379
hapmaprs398124379
1000 genomesrs398124379
hgdprs398124379
ensemblrs398124379
gopubmedrs398124379
geneviewrs398124379
scholarrs398124379
googlers398124379
pharmgkbrs398124379
gwascentralrs398124379
openSNPrs398124379
23andMers398124379
23andMe allrs398124379
SNP Nexus

SNPshotrs398124379
SNPdbers398124379
MSV3drs398124379
GWAS Ctlgrs398124379
Max Magnitude0
ClinVar
Risk rs398124379(;)
Alt rs398124379(;)
Reference rs398124379(TGTC;TGTC)
Significance Pathogenic
Disease not provided Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN not provided Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176694695_176694698delTCTG
CLNSRC HGMD
CLNACC RCV000082127.3, RCV000146867.2,