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rs104893745

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893745(C;G)
Make rs104893745(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position69951882
GeneMITF
is asnp
is mentioned by
dbSNPrs104893745
ebirs104893745
HLIrs104893745
Exacrs104893745
Varsomers104893745
Maprs104893745
PheGenIrs104893745
hapmaprs104893745
1000 genomesrs104893745
hgdprs104893745
ensemblrs104893745
gopubmedrs104893745
geneviewrs104893745
scholarrs104893745
googlers104893745
pharmgkbrs104893745
gwascentralrs104893745
openSNPrs104893745
23andMers104893745
23andMe allrs104893745
SNP Nexus

SNPshotrs104893745
SNPdbers104893745
MSV3drs104893745
GWAS Ctlgrs104893745
Max Magnitude0
OMIM156845
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893745(G;G)
Alt rs104893745(G;G)
Reference rs104893745(C;C)
Significance Pathogenic
Disease Tietz syndrome
Variation info
Gene MITF
CLNDBN Tietz syndrome
Reversed 0
HGVS NC_000003.11:g.70001033C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015345.25,