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rs794727930

From SNPedia

Orientationplus
Geno Mag Summary
(AAAG;AAAG) 0 common in clinvar
Make rs794727930(-;-)
Make rs794727930(-;GAAA)
Make rs794727930(GAAA;GAAA)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177239780
GeneNSD1
is asnp
is mentioned by
dbSNPrs794727930
ebirs794727930
HLIrs794727930
Exacrs794727930
Varsomers794727930
Maprs794727930
PheGenIrs794727930
hapmaprs794727930
1000 genomesrs794727930
hgdprs794727930
ensemblrs794727930
gopubmedrs794727930
geneviewrs794727930
scholarrs794727930
googlers794727930
pharmgkbrs794727930
gwascentralrs794727930
openSNPrs794727930
23andMers794727930
23andMe allrs794727930
SNP Nexus

SNPshotrs794727930
SNPdbers794727930
MSV3drs794727930
GWAS Ctlgrs794727930
Max Magnitude0
ClinVar
Risk rs794727930(;)
Alt rs794727930(;)
Reference rs794727930(AAAG;AAAG)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176666781_176666784delGAAA
CLNSRC
CLNACC RCV000180364.1,