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rs1057518765

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518765(A;G)
Make rs1057518765(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position69949082
GeneMITF
is asnp
is mentioned by
dbSNPrs1057518765
dbSNP (old)rs1057518765
ClinGenrs1057518765
ebirs1057518765
HLIrs1057518765
Exacrs1057518765
Gnomadrs1057518765
Varsomers1057518765
Maprs1057518765
PheGenIrs1057518765
Biobankrs1057518765
1000 genomesrs1057518765
hgdprs1057518765
ensemblrs1057518765
gopubmedrs1057518765
geneviewrs1057518765
scholarrs1057518765
googlers1057518765
pharmgkbrs1057518765
gwascentralrs1057518765
openSNPrs1057518765
23andMers1057518765
23andMe allrs1057518765
SNPshotrs1057518765
SNPdbers1057518765
MSV3drs1057518765
GWAS Ctlgrs1057518765
Max Magnitude0
ClinVar
Risk rs1057518765(G;G)
Alt rs1057518765(G;G)
Reference Rs1057518765(A;A)
Significance Probable-Pathogenic
Disease Waardenburg syndrome
Variation info
Gene MITF
CLNDBN Waardenburg syndrome
Reversed 0
HGVS NC_000003.11:g.69998233A>G
CLNSRC
CLNACC RCV000415280.1,