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rs876657698

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs876657698(A;A)
Make rs876657698(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position69959284
GeneMITF
is asnp
is mentioned by
dbSNPrs876657698
dbSNP (classic)rs876657698
ClinGenrs876657698
ebirs876657698
HLIrs876657698
Exacrs876657698
Gnomadrs876657698
Varsomers876657698
LitVarrs876657698
Maprs876657698
PheGenIrs876657698
Biobankrs876657698
1000 genomesrs876657698
hgdprs876657698
ensemblrs876657698
geneviewrs876657698
scholarrs876657698
googlers876657698
pharmgkbrs876657698
gwascentralrs876657698
openSNPrs876657698
23andMers876657698
SNPshotrs876657698
SNPdbers876657698
MSV3drs876657698
GWAS Ctlgrs876657698
Max Magnitude0
ClinVar
Risk rs876657698(A;A)
Alt rs876657698(A;A)
Reference Rs876657698(G;G)
Significance Pathogenic
Disease Waardenburg syndrome
Variation info
Gene MITF
CLNDBN Waardenburg syndrome
Reversed 0
HGVS NC_000003.11:g.70008435G>A
CLNSRC
CLNACC RCV000216354.1,