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rs28932177

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28932177(A;A)
Make rs28932177(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome5
Position177210470
GeneNSD1
is asnp
is mentioned by
dbSNPrs28932177
dbSNP (classic)rs28932177
ClinGenrs28932177
ebirs28932177
HLIrs28932177
Exacrs28932177
Gnomadrs28932177
Varsomers28932177
LitVarrs28932177
Maprs28932177
PheGenIrs28932177
Biobankrs28932177
1000 genomesrs28932177
hgdprs28932177
ensemblrs28932177
geneviewrs28932177
scholarrs28932177
googlers28932177
pharmgkbrs28932177
gwascentralrs28932177
openSNPrs28932177
23andMers28932177
23andMe allrs28932177
SNPshotrs28932177
SNPdbers28932177
MSV3drs28932177
GWAS Ctlgrs28932177
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 28146470OA-icon.png] Rare and low-frequency coding variants alter human adult height.


ClinVar
Risk rs28932177(A;A)
Alt rs28932177(A;A)
Reference Rs28932177(G;G)
Significance Probable-non-pathogenic
Disease not specified Beckwith-Wiedemann syndrome Sotos Syndrome Weaver syndrome
Variation info
Gene NSD1
CLNDBN not specified Beckwith-Wiedemann syndrome Sotos Syndrome Weaver syndrome
Reversed 0
HGVS NC_000005.9:g.176637471G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000146778.2, RCV000228344.2, RCV000314056.1, RCV000403985.1,