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rs483352866

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs483352866(C;T)
Make rs483352866(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position2496681
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs483352866
ebirs483352866
HLIrs483352866
Exacrs483352866
Varsomers483352866
Maprs483352866
PheGenIrs483352866
hapmaprs483352866
1000 genomesrs483352866
hgdprs483352866
ensemblrs483352866
gopubmedrs483352866
geneviewrs483352866
scholarrs483352866
googlers483352866
pharmgkbrs483352866
gwascentralrs483352866
openSNPrs483352866
23andMers483352866
23andMe allrs483352866
SNP Nexus

SNPshotrs483352866
SNPdbers483352866
MSV3drs483352866
GWAS Ctlgrs483352866
Max Magnitude0
ClinVar
Risk rs483352866(T;T)
Alt rs483352866(T;T)
Reference rs483352866(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene TBC1D24
CLNDBN Deafness, autosomal recessive 86 Deafness, autosomal dominant 65
Reversed 0
HGVS NC_000016.9:g.2546682C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000119776.1, RCV000144534.2,