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rs78247455

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs78247455(A;A)
Make rs78247455(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome5
Position177295004
GeneNSD1
is asnp
is mentioned by
dbSNPrs78247455
dbSNP (classic)rs78247455
ClinGenrs78247455
ebirs78247455
HLIrs78247455
Exacrs78247455
Gnomadrs78247455
Varsomers78247455
LitVarrs78247455
Maprs78247455
PheGenIrs78247455
Biobankrs78247455
1000 genomesrs78247455
hgdprs78247455
ensemblrs78247455
geneviewrs78247455
scholarrs78247455
googlers78247455
pharmgkbrs78247455
gwascentralrs78247455
openSNPrs78247455
23andMers78247455
23andMe allrs78247455
SNPshotrs78247455
SNPdbers78247455
MSV3drs78247455
GWAS Ctlgrs78247455
Max Magnitude0

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

ClinVar
Risk rs78247455(A;A)
Alt rs78247455(A;A)
Reference Rs78247455(G;G)
Significance Probable-non-pathogenic
Disease not specified Sotos Syndrome Weaver syndrome Beckwith-Wiedemann syndrome
Variation info
Gene NSD1
CLNDBN not specified Sotos Syndrome Weaver syndrome Beckwith-Wiedemann syndrome
Reversed 0
HGVS NC_000005.9:g.176722005G>A
CLNSRC
CLNACC RCV000082144.6, RCV000302056.1, RCV000403320.1, RCV000469381.1,