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rs876657699

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs876657699(C;T)
Make rs876657699(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position69959370
GeneMITF
is asnp
is mentioned by
dbSNPrs876657699
dbSNP (classic)rs876657699
ClinGenrs876657699
ebirs876657699
HLIrs876657699
Exacrs876657699
Gnomadrs876657699
Varsomers876657699
LitVarrs876657699
Maprs876657699
PheGenIrs876657699
Biobankrs876657699
1000 genomesrs876657699
hgdprs876657699
ensemblrs876657699
geneviewrs876657699
scholarrs876657699
googlers876657699
pharmgkbrs876657699
gwascentralrs876657699
openSNPrs876657699
23andMers876657699
SNPshotrs876657699
SNPdbers876657699
MSV3drs876657699
GWAS Ctlgrs876657699
Max Magnitude0
ClinVar
Risk rs876657699(T;T)
Alt rs876657699(T;T)
Reference Rs876657699(C;C)
Significance Pathogenic
Disease Waardenburg syndrome
Variation info
Gene MITF
CLNDBN Waardenburg syndrome
Reversed 0
HGVS NC_000003.11:g.70008521C>T
CLNSRC
CLNACC RCV000218716.1,