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rs398124383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398124383(-;-)
Make rs398124383(-;C)
Make rs398124383(C;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position177293906
GeneNSD1
is asnp
is mentioned by
dbSNPrs398124383
ebirs398124383
HLIrs398124383
Exacrs398124383
Varsomers398124383
Maprs398124383
PheGenIrs398124383
hapmaprs398124383
1000 genomesrs398124383
hgdprs398124383
ensemblrs398124383
gopubmedrs398124383
geneviewrs398124383
scholarrs398124383
googlers398124383
pharmgkbrs398124383
gwascentralrs398124383
openSNPrs398124383
23andMers398124383
23andMe allrs398124383
SNP Nexus

SNPshotrs398124383
SNPdbers398124383
MSV3drs398124383
GWAS Ctlgrs398124383
Max Magnitude0
ClinVar
Risk rs398124383(C;C)
Alt rs398124383(C;C)
Reference rs398124383(;)
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.176720907_176720908insC
CLNSRC ClinVar
CLNACC RCV000082134.3, RCV000176424.1,