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rs121908144

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908144(C;C)
Make rs121908144(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position54999221
GeneBSND
is asnp
is mentioned by
dbSNPrs121908144
ebirs121908144
HLIrs121908144
Exacrs121908144
Varsomers121908144
Maprs121908144
PheGenIrs121908144
hapmaprs121908144
1000 genomesrs121908144
hgdprs121908144
ensemblrs121908144
gopubmedrs121908144
geneviewrs121908144
scholarrs121908144
googlers121908144
pharmgkbrs121908144
gwascentralrs121908144
openSNPrs121908144
23andMers121908144
23andMe allrs121908144
SNP Nexus

SNPshotrs121908144
SNPdbers121908144
MSV3drs121908144
GWAS Ctlgrs121908144
Max Magnitude0
OMIM606412
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908144(C;C)
Alt rs121908144(C;C)
Reference rs121908144(T;T)
Significance Pathogenic
Disease Sensorineural deafness with mild renal dysfunction
Variation info
Gene BSND
CLNDBN Sensorineural deafness with mild renal dysfunction
Reversed 0
HGVS NC_000001.10:g.55464894T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004638.3,