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rs199700840

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199700840(A;A)
Make rs199700840(A;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position2497026
GeneTBC1D24
is asnp
is mentioned by
dbSNPrs199700840
ebirs199700840
HLIrs199700840
Exacrs199700840
Varsomers199700840
Maprs199700840
PheGenIrs199700840
hapmaprs199700840
1000 genomesrs199700840
hgdprs199700840
ensemblrs199700840
gopubmedrs199700840
geneviewrs199700840
scholarrs199700840
googlers199700840
pharmgkbrs199700840
gwascentralrs199700840
openSNPrs199700840
23andMers199700840
23andMe allrs199700840
SNP Nexus

SNPshotrs199700840
SNPdbers199700840
MSV3drs199700840
GWAS Ctlgrs199700840
Max Magnitude0
ClinVar
Risk rs199700840(A;A) rs199700840(C;C)
Alt rs199700840(A;A) rs199700840(C;C)
Reference Rs199700840(G;G)
Significance Pathogenic
Disease not specified Deafness
Variation info
Gene TBC1D24
CLNDBN not specified Deafness, autosomal recessive 86
Reversed 0
HGVS NC_000016.9:g.2547027G>A; NC_000016.9:g.2547027G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000189706.3, RCV000087078.6,