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rs587776586

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776586(C;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position222297057
GeneCCDC140, PAX3
is asnp
is mentioned by
dbSNPrs587776586
ebirs587776586
HLIrs587776586
Exacrs587776586
Varsomers587776586
Maprs587776586
PheGenIrs587776586
hapmaprs587776586
1000 genomesrs587776586
hgdprs587776586
ensemblrs587776586
gopubmedrs587776586
geneviewrs587776586
scholarrs587776586
googlers587776586
pharmgkbrs587776586
gwascentralrs587776586
openSNPrs587776586
23andMers587776586
23andMe allrs587776586
SNP Nexus

SNPshotrs587776586
SNPdbers587776586
MSV3drs587776586
GWAS Ctlgrs587776586
Max Magnitude0
ClinVar
Risk rs587776586(C;C)
Alt rs587776586(C;C)
Reference rs587776586(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.223161776C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004430.3,