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rs28939716

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 2
(G;G) 3
ReferenceGRCh38 38.1/141
Chromosome4
Position41747357
GenePHOX2B
is asnp
is mentioned by
dbSNPrs28939716
ebirs28939716
HLIrs28939716
Exacrs28939716
Varsomers28939716
Maprs28939716
PheGenIrs28939716
hapmaprs28939716
1000 genomesrs28939716
hgdprs28939716
ensemblrs28939716
gopubmedrs28939716
geneviewrs28939716
scholarrs28939716
googlers28939716
pharmgkbrs28939716
gwascentralrs28939716
openSNPrs28939716
23andMers28939716
23andMe allrs28939716
SNP Nexus

SNPshotrs28939716
SNPdbers28939716
MSV3drs28939716
GWAS Ctlgrs28939716
Max Magnitude3
OMIM603851
DescHIRSCHSPRUNG DISEASE WITH NEUROBLASTOMA
Variant0006
Relatedalso
ClinVar
Risk rs28939716(G;G)
Alt rs28939716(G;G)
Reference rs28939716(C;C)
Significance Pathogenic
Disease Hirschsprung disease ganglioneuroblastoma
Variation info
Gene PHOX2B
CLNDBN Hirschsprung disease ganglioneuroblastoma
Reversed 1
HGVS NC_000004.11:g.41749374G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006383.2,