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rs876657717

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs876657717(A;A)
Make rs876657717(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position222232202
GeneLOC105373901, PAX3
is asnp
is mentioned by
dbSNPrs876657717
ebirs876657717
HLIrs876657717
Exacrs876657717
Varsomers876657717
Maprs876657717
PheGenIrs876657717
hapmaprs876657717
1000 genomesrs876657717
hgdprs876657717
ensemblrs876657717
gopubmedrs876657717
geneviewrs876657717
scholarrs876657717
googlers876657717
pharmgkbrs876657717
gwascentralrs876657717
openSNPrs876657717
23andMers876657717
23andMe allrs876657717
SNP Nexus

SNPshotrs876657717
SNPdbers876657717
MSV3drs876657717
GWAS Ctlgrs876657717
Max Magnitude0
ClinVar
Risk rs876657717(A;A)
Alt rs876657717(A;A)
Reference rs876657717(G;G)
Significance Pathogenic
Disease Waardenburg syndrome
Variation info
Gene PAX3
CLNDBN Waardenburg syndrome
Reversed 1
HGVS NC_000002.11:g.223096921C>T
CLNSRC
CLNACC RCV000216335.1,