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rs121918339

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918339(C;T)
Make rs121918339(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position100396373
GeneSLC17A8
is asnp
is mentioned by
dbSNPrs121918339
ebirs121918339
HLIrs121918339
Exacrs121918339
Varsomers121918339
Maprs121918339
PheGenIrs121918339
hapmaprs121918339
1000 genomesrs121918339
hgdprs121918339
ensemblrs121918339
gopubmedrs121918339
geneviewrs121918339
scholarrs121918339
googlers121918339
pharmgkbrs121918339
gwascentralrs121918339
openSNPrs121918339
23andMers121918339
23andMe allrs121918339
SNP Nexus

SNPshotrs121918339
SNPdbers121918339
MSV3drs121918339
GWAS Ctlgrs121918339
Max Magnitude0
OMIM607557
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918339(T;T)
Alt rs121918339(T;T)
Reference rs121918339(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene SLC17A8
CLNDBN Deafness, autosomal dominant 25
Reversed 0
HGVS NC_000012.11:g.100790151C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003256.2,