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rs387906220

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs387906220(-;-)
Make rs387906220(-;GGGCGCGGCTG)
Make rs387906220(GGGCGCGGCTG;GGGCGCGGCTG)
ReferenceGRCh38 38.1/141
Chromosome9
Position137200474
GeneTPRN
is asnp
is mentioned by
dbSNPrs387906220
ebirs387906220
HLIrs387906220
Exacrs387906220
Varsomers387906220
Maprs387906220
PheGenIrs387906220
hapmaprs387906220
1000 genomesrs387906220
hgdprs387906220
ensemblrs387906220
gopubmedrs387906220
geneviewrs387906220
scholarrs387906220
googlers387906220
pharmgkbrs387906220
gwascentralrs387906220
openSNPrs387906220
23andMers387906220
23andMe allrs387906220
SNP Nexus

SNPshotrs387906220
SNPdbers387906220
MSV3drs387906220
GWAS Ctlgrs387906220
Max Magnitude0
ClinVar
Risk rs387906220(GGGCGCGGCTG;GGGCGCGGCTG)
Alt rs387906220(GGGCGCGGCTG;GGGCGCGGCTG)
Reference rs387906220(;)
Significance Pathogenic
Disease Deafness
Variation info
Gene TPRN
CLNDBN Deafness, autosomal recessive 79
Reversed 1
HGVS NC_000009.11:g.140094927_140094937dupCAGCCGCGCCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000159.3,