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rs387906221

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGGGGCGCGGC;GGGGGCGCGGC) 0 common in clinvar
Make rs387906221(-;-)
Make rs387906221(-;GGGGGCGCGGC)
ReferenceGRCh38 38.1/141
Chromosome9
Position137200477
GeneTPRN
is asnp
is mentioned by
dbSNPrs387906221
dbSNP (classic)rs387906221
ClinGenrs387906221
ebirs387906221
HLIrs387906221
Exacrs387906221
Gnomadrs387906221
Varsomers387906221
LitVarrs387906221
Maprs387906221
PheGenIrs387906221
Biobankrs387906221
1000 genomesrs387906221
hgdprs387906221
ensemblrs387906221
geneviewrs387906221
scholarrs387906221
googlers387906221
pharmgkbrs387906221
gwascentralrs387906221
openSNPrs387906221
23andMers387906221
SNPshotrs387906221
SNPdbers387906221
MSV3drs387906221
GWAS Ctlgrs387906221
Max Magnitude0
ClinVar
Risk rs387906221(-;-)
Alt rs387906221(-;-)
Reference Rs387906221(GGGGGCGCGGC;GGGGGCGCGGC)
Significance Pathogenic
Disease Deafness
Variation info
Gene TPRN
CLNDBN Deafness, autosomal recessive 79
Reversed 1
HGVS NC_000009.11:g.140094929_140094939delGCCGCGCCCCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000160.3,