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rs1057516048

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516048(A;T)
Make rs1057516048(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position177283796
GeneNSD1
is asnp
is mentioned by
dbSNPrs1057516048
dbSNP (old)rs1057516048
ClinGenrs1057516048
ebirs1057516048
HLIrs1057516048
Exacrs1057516048
Gnomadrs1057516048
Varsomers1057516048
Maprs1057516048
PheGenIrs1057516048
Biobankrs1057516048
1000 genomesrs1057516048
hgdprs1057516048
ensemblrs1057516048
gopubmedrs1057516048
geneviewrs1057516048
scholarrs1057516048
googlers1057516048
pharmgkbrs1057516048
gwascentralrs1057516048
openSNPrs1057516048
23andMers1057516048
23andMe allrs1057516048
SNPshotrs1057516048
SNPdbers1057516048
MSV3drs1057516048
GWAS Ctlgrs1057516048
Max Magnitude0
ClinVar
Risk rs1057516048(T;T)
Alt rs1057516048(T;T)
Reference Rs1057516048(A;A)
Significance Probable-Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176710797A>T
CLNSRC
CLNACC RCV000408632.1,