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rs374740802

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs374740802(C;G)
Make rs374740802(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177210749
GeneNSD1
is asnp
is mentioned by
dbSNPrs374740802
dbSNP (classic)rs374740802
ClinGenrs374740802
ebirs374740802
HLIrs374740802
Exacrs374740802
Gnomadrs374740802
Varsomers374740802
LitVarrs374740802
Maprs374740802
PheGenIrs374740802
Biobankrs374740802
1000 genomesrs374740802
hgdprs374740802
ensemblrs374740802
geneviewrs374740802
scholarrs374740802
googlers374740802
pharmgkbrs374740802
gwascentralrs374740802
openSNPrs374740802
23andMers374740802
SNPshotrs374740802
SNPdbers374740802
MSV3drs374740802
GWAS Ctlgrs374740802
Max Magnitude0
ClinVar
Risk rs374740802(G;G) rs374740802(T;T)
Alt rs374740802(G;G) rs374740802(T;T)
Reference Rs374740802(C;C)
Significance Probable-Pathogenic
Disease not specified Beckwith-Wiedemann syndrome Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN not specified Beckwith-Wiedemann syndrome Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176637750C>G; NC_000005.9:g.176637750C>T
CLNSRC
CLNACC RCV000082110.4, RCV000195430.1,