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rs104893654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893654(C;C)
Make rs104893654(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position222297031
GeneCCDC140, PAX3
is asnp
is mentioned by
dbSNPrs104893654
ebirs104893654
HLIrs104893654
Exacrs104893654
Varsomers104893654
Maprs104893654
PheGenIrs104893654
hapmaprs104893654
1000 genomesrs104893654
hgdprs104893654
ensemblrs104893654
gopubmedrs104893654
geneviewrs104893654
scholarrs104893654
googlers104893654
pharmgkbrs104893654
gwascentralrs104893654
openSNPrs104893654
23andMers104893654
23andMe allrs104893654
SNP Nexus

SNPshotrs104893654
SNPdbers104893654
MSV3drs104893654
GWAS Ctlgrs104893654
Merged fromRs28939096
Max Magnitude0
OMIM606597
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104893654(C;C)
Alt rs104893654(C;C)
Reference rs104893654(T;T)
Significance Pathogenic
Disease Klein-Waardenberg's syndrome
Variation info
Gene PAX3 CCDC140
CLNDBN Klein-Waardenberg's syndrome
Reversed 1
HGVS NC_000002.11:g.223161750A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004437.3,