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rs878853234

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878853234(-;-)
Make rs878853234(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position69964875
GeneMITF
is asnp
is mentioned by
dbSNPrs878853234
ebirs878853234
HLIrs878853234
Exacrs878853234
Varsomers878853234
Maprs878853234
PheGenIrs878853234
hapmaprs878853234
1000 genomesrs878853234
hgdprs878853234
ensemblrs878853234
gopubmedrs878853234
geneviewrs878853234
scholarrs878853234
googlers878853234
pharmgkbrs878853234
gwascentralrs878853234
openSNPrs878853234
23andMers878853234
23andMe allrs878853234
SNP Nexus

SNPshotrs878853234
SNPdbers878853234
MSV3drs878853234
GWAS Ctlgrs878853234
Max Magnitude0
ClinVar
Risk rs878853234(;)
Alt rs878853234(;)
Reference rs878853234(G;G)
Significance Pathogenic
Disease Waardenburg syndrome type 2A
Variation info
Gene MITF
CLNDBN Waardenburg syndrome type 2A
Reversed 0
HGVS NC_000003.11:g.70014026delG
CLNSRC
CLNACC RCV000225077.1,