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rs876661317

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs876661317(A;T)
Make rs876661317(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position222295564
GenePAX3
is asnp
is mentioned by
dbSNPrs876661317
ebirs876661317
HLIrs876661317
Exacrs876661317
Varsomers876661317
Maprs876661317
PheGenIrs876661317
hapmaprs876661317
1000 genomesrs876661317
hgdprs876661317
ensemblrs876661317
gopubmedrs876661317
geneviewrs876661317
scholarrs876661317
googlers876661317
pharmgkbrs876661317
gwascentralrs876661317
openSNPrs876661317
23andMers876661317
23andMe allrs876661317
SNP Nexus

SNPshotrs876661317
SNPdbers876661317
MSV3drs876661317
GWAS Ctlgrs876661317
Max Magnitude0
ClinVar
Risk rs876661317(T;T)
Alt rs876661317(T;T)
Reference rs876661317(A;A)
Significance Pathogenic
Disease Waardenburg syndrome type 1
Variation info
Gene PAX3
CLNDBN Waardenburg syndrome type 1
Reversed 1
HGVS NC_000002.11:g.223160283T>A
CLNSRC
CLNACC RCV000223708.1,