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rs104893744

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893744(C;C)
Make rs104893744(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position69959310
GeneMITF
is asnp
is mentioned by
dbSNPrs104893744
ebirs104893744
HLIrs104893744
Exacrs104893744
Varsomers104893744
Maprs104893744
PheGenIrs104893744
hapmaprs104893744
1000 genomesrs104893744
hgdprs104893744
ensemblrs104893744
gopubmedrs104893744
geneviewrs104893744
scholarrs104893744
googlers104893744
pharmgkbrs104893744
gwascentralrs104893744
openSNPrs104893744
23andMers104893744
23andMe allrs104893744
SNP Nexus

SNPshotrs104893744
SNPdbers104893744
MSV3drs104893744
GWAS Ctlgrs104893744
Max Magnitude0
OMIM156845
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104893744(C;C)
Alt rs104893744(C;C)
Reference rs104893744(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.70008461T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015343.26,