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rs121908145

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908145(G;T)
Make rs121908145(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position54999196
GeneBSND
is asnp
is mentioned by
dbSNPrs121908145
ebirs121908145
HLIrs121908145
Exacrs121908145
Varsomers121908145
Maprs121908145
PheGenIrs121908145
hapmaprs121908145
1000 genomesrs121908145
hgdprs121908145
ensemblrs121908145
gopubmedrs121908145
geneviewrs121908145
scholarrs121908145
googlers121908145
pharmgkbrs121908145
gwascentralrs121908145
openSNPrs121908145
23andMers121908145
23andMe allrs121908145
SNP Nexus

SNPshotrs121908145
SNPdbers121908145
MSV3drs121908145
GWAS Ctlgrs121908145
GMAF0.0004591
Max Magnitude0
OMIM606412
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908145(A,T;A,T)
Alt rs121908145(A,T;A,T)
Reference rs121908145(G;G)
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.55464869G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004639.3,