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rs876657700

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs876657700(C;G)
Make rs876657700(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position69941273
GeneMITF
is asnp
is mentioned by
dbSNPrs876657700
dbSNP (classic)rs876657700
ClinGenrs876657700
ebirs876657700
HLIrs876657700
Exacrs876657700
Gnomadrs876657700
Varsomers876657700
LitVarrs876657700
Maprs876657700
PheGenIrs876657700
Biobankrs876657700
1000 genomesrs876657700
hgdprs876657700
ensemblrs876657700
geneviewrs876657700
scholarrs876657700
googlers876657700
pharmgkbrs876657700
gwascentralrs876657700
openSNPrs876657700
23andMers876657700
SNPshotrs876657700
SNPdbers876657700
MSV3drs876657700
GWAS Ctlgrs876657700
Max Magnitude0
ClinVar
Risk rs876657700(G;G)
Alt rs876657700(G;G)
Reference Rs876657700(C;C)
Significance Pathogenic
Disease Waardenburg syndrome
Variation info
Gene MITF
CLNDBN Waardenburg syndrome
Reversed 0
HGVS NC_000003.11:g.69990424C>G
CLNSRC
CLNACC RCV000223662.1,