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rs104893747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893747(C;C)
Make rs104893747(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position69964880
GeneMITF
is asnp
is mentioned by
dbSNPrs104893747
ebirs104893747
HLIrs104893747
Exacrs104893747
Varsomers104893747
Maprs104893747
PheGenIrs104893747
hapmaprs104893747
1000 genomesrs104893747
hgdprs104893747
ensemblrs104893747
gopubmedrs104893747
geneviewrs104893747
scholarrs104893747
googlers104893747
pharmgkbrs104893747
gwascentralrs104893747
openSNPrs104893747
23andMers104893747
23andMe allrs104893747
SNP Nexus

SNPshotrs104893747
SNPdbers104893747
MSV3drs104893747
GWAS Ctlgrs104893747
Max Magnitude0
OMIM156845
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104893747(C;C)
Alt rs104893747(C;C)
Reference rs104893747(T;T)
Significance Pathogenic
Disease Waardenburg syndrome type 2A
Variation info
Gene MITF
CLNDBN Waardenburg syndrome type 2A
Reversed 0
HGVS NC_000003.11:g.70014031T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015347.26,