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rs121908111

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908111(C;C)
Make rs121908111(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position222297156
GeneCCDC140, PAX3
is asnp
is mentioned by
dbSNPrs121908111
ebirs121908111
HLIrs121908111
Exacrs121908111
Varsomers121908111
Maprs121908111
PheGenIrs121908111
hapmaprs121908111
1000 genomesrs121908111
hgdprs121908111
ensemblrs121908111
gopubmedrs121908111
geneviewrs121908111
scholarrs121908111
googlers121908111
pharmgkbrs121908111
gwascentralrs121908111
openSNPrs121908111
23andMers121908111
23andMe allrs121908111
SNP Nexus

SNPshotrs121908111
SNPdbers121908111
MSV3drs121908111
GWAS Ctlgrs121908111
Merged fromRs28939095
Max Magnitude0
OMIM606597
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908111(C;C)
Alt rs121908111(C;C)
Reference rs121908111(G;G)
Significance Pathogenic
Disease Waardenburg syndrome type 1
Variation info
Gene PAX3 CCDC140
CLNDBN Waardenburg syndrome type 1
Reversed 1
HGVS NC_000002.11:g.223161875C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004430.1,