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rs104893650

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893650(C;T)
Make rs104893650(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position222297150
GeneCCDC140, PAX3
is asnp
is mentioned by
dbSNPrs104893650
ebirs104893650
HLIrs104893650
Exacrs104893650
Varsomers104893650
Maprs104893650
PheGenIrs104893650
hapmaprs104893650
1000 genomesrs104893650
hgdprs104893650
ensemblrs104893650
gopubmedrs104893650
geneviewrs104893650
scholarrs104893650
googlers104893650
pharmgkbrs104893650
gwascentralrs104893650
openSNPrs104893650
23andMers104893650
23andMe allrs104893650
SNP Nexus

SNPshotrs104893650
SNPdbers104893650
MSV3drs104893650
GWAS Ctlgrs104893650
Max Magnitude0
OMIM606597
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893650(T;T)
Alt rs104893650(T;T)
Reference rs104893650(C;C)
Significance Pathogenic
Disease Waardenburg syndrome type 1
Variation info
Gene PAX3 CCDC140
CLNDBN Waardenburg syndrome type 1
Reversed 1
HGVS NC_000002.11:g.223161869G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004426.2,