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rs137853186

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853186(C;C)
Make rs137853186(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position72106165
GeneANAPC15, LRTOMT
is asnp
is mentioned by
dbSNPrs137853186
dbSNP (classic)rs137853186
ClinGenrs137853186
ebirs137853186
HLIrs137853186
Exacrs137853186
Gnomadrs137853186
Varsomers137853186
LitVarrs137853186
Maprs137853186
PheGenIrs137853186
Biobankrs137853186
1000 genomesrs137853186
hgdprs137853186
ensemblrs137853186
geneviewrs137853186
scholarrs137853186
googlers137853186
pharmgkbrs137853186
gwascentralrs137853186
openSNPrs137853186
23andMers137853186
SNPshotrs137853186
SNPdbers137853186
MSV3drs137853186
GWAS Ctlgrs137853186
Max Magnitude0
OMIM612414
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853186(C;C)
Alt rs137853186(C;C)
Reference Rs137853186(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene ANAPC15 LRTOMT
CLNDBN Deafness, autosomal recessive 63
Reversed 0
HGVS NC_000011.9:g.71817211T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000574.2,