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rs104893653

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893653(A;C)
Make rs104893653(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position222297160
GeneCCDC140, PAX3
is asnp
is mentioned by
dbSNPrs104893653
ebirs104893653
HLIrs104893653
Exacrs104893653
Varsomers104893653
Maprs104893653
PheGenIrs104893653
hapmaprs104893653
1000 genomesrs104893653
hgdprs104893653
ensemblrs104893653
gopubmedrs104893653
geneviewrs104893653
scholarrs104893653
googlers104893653
pharmgkbrs104893653
gwascentralrs104893653
openSNPrs104893653
23andMers104893653
23andMe allrs104893653
SNP Nexus

SNPshotrs104893653
SNPdbers104893653
MSV3drs104893653
GWAS Ctlgrs104893653
Max Magnitude0
OMIM606597
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104893653(C;C)
Alt rs104893653(C;C)
Reference rs104893653(A;A)
Significance Pathogenic
Disease Klein-Waardenberg's syndrome
Variation info
Gene PAX3 CCDC140
CLNDBN Klein-Waardenberg's syndrome
Reversed 1
HGVS NC_000002.11:g.223161879T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004435.2,