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rs104893651

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893651(C;T)
Make rs104893651(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position222297048
GeneCCDC140, PAX3
is asnp
is mentioned by
dbSNPrs104893651
ebirs104893651
HLIrs104893651
Exacrs104893651
Varsomers104893651
Maprs104893651
PheGenIrs104893651
hapmaprs104893651
1000 genomesrs104893651
hgdprs104893651
ensemblrs104893651
gopubmedrs104893651
geneviewrs104893651
scholarrs104893651
googlers104893651
pharmgkbrs104893651
gwascentralrs104893651
openSNPrs104893651
23andMers104893651
23andMe allrs104893651
SNP Nexus

SNPshotrs104893651
SNPdbers104893651
MSV3drs104893651
GWAS Ctlgrs104893651
Max Magnitude0
OMIM606597
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104893651(T;T)
Alt rs104893651(T;T)
Reference rs104893651(C;C)
Significance Pathogenic
Disease Klein-Waardenberg's syndrome Waardenburg syndrome type 1
Variation info
Gene PAX3 CCDC140
CLNDBN Klein-Waardenberg's syndrome Waardenburg syndrome type 1
Reversed 1
HGVS NC_000002.11:g.223161767G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004432.2, RCV000004433.2,