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rs1057520339

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057520339(C;T)
Make rs1057520339(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position177210761
GeneNSD1
is asnp
is mentioned by
dbSNPrs1057520339
dbSNP (old)rs1057520339
ClinGenrs1057520339
ebirs1057520339
HLIrs1057520339
Exacrs1057520339
Gnomadrs1057520339
Varsomers1057520339
Maprs1057520339
PheGenIrs1057520339
Biobankrs1057520339
1000 genomesrs1057520339
hgdprs1057520339
ensemblrs1057520339
gopubmedrs1057520339
geneviewrs1057520339
scholarrs1057520339
googlers1057520339
pharmgkbrs1057520339
gwascentralrs1057520339
openSNPrs1057520339
23andMers1057520339
23andMe allrs1057520339
SNPshotrs1057520339
SNPdbers1057520339
MSV3drs1057520339
GWAS Ctlgrs1057520339
Max Magnitude0
ClinVar
Risk rs1057520339(T;T)
Alt rs1057520339(T;T)
Reference Rs1057520339(C;C)
Significance Pathogenic
Disease not provided Beckwith-Wiedemann syndrome
Variation info
Gene NSD1
CLNDBN not provided Beckwith-Wiedemann syndrome
Reversed 0
HGVS NC_000005.9:g.176637762C>T
CLNSRC
CLNACC RCV000436276.1, RCV000460451.1,