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rs587777147

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777147(G;T)
Make rs587777147(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position2496356
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs587777147
dbSNP (classic)rs587777147
ClinGenrs587777147
ebirs587777147
HLIrs587777147
Exacrs587777147
Gnomadrs587777147
Varsomers587777147
LitVarrs587777147
Maprs587777147
PheGenIrs587777147
Biobankrs587777147
1000 genomesrs587777147
hgdprs587777147
ensemblrs587777147
geneviewrs587777147
scholarrs587777147
googlers587777147
pharmgkbrs587777147
gwascentralrs587777147
openSNPrs587777147
23andMers587777147
SNPshotrs587777147
SNPdbers587777147
MSV3drs587777147
GWAS Ctlgrs587777147
Max Magnitude0
ClinVar
Risk rs587777147(T;T)
Alt rs587777147(T;T)
Reference Rs587777147(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene TBC1D24
CLNDBN Deafness, autosomal recessive 86
Reversed 0
HGVS NC_000016.9:g.2546357G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000087077.4,