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rs104893746

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893746(C;T)
Make rs104893746(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position69956460
GeneMITF
is asnp
is mentioned by
dbSNPrs104893746
ebirs104893746
HLIrs104893746
Exacrs104893746
Varsomers104893746
Maprs104893746
PheGenIrs104893746
hapmaprs104893746
1000 genomesrs104893746
hgdprs104893746
ensemblrs104893746
gopubmedrs104893746
geneviewrs104893746
scholarrs104893746
googlers104893746
pharmgkbrs104893746
gwascentralrs104893746
openSNPrs104893746
23andMers104893746
23andMe allrs104893746
SNP Nexus

SNPshotrs104893746
SNPdbers104893746
MSV3drs104893746
GWAS Ctlgrs104893746
Max Magnitude0
OMIM156845
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104893746(T;T)
Alt rs104893746(T;T)
Reference rs104893746(C;C)
Significance Pathogenic
Disease Waardenburg syndrome type 2A
Variation info
Gene MITF
CLNDBN Waardenburg syndrome type 2A
Reversed 0
HGVS NC_000003.11:g.70005611C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015346.26,