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rs545947177

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs545947177(A;C)
Make rs545947177(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position72106214
GeneANAPC15, LRTOMT
is asnp
is mentioned by
dbSNPrs545947177
dbSNP (old)rs545947177
ClinGenrs545947177
ebirs545947177
HLIrs545947177
Exacrs545947177
Gnomadrs545947177
Varsomers545947177
Maprs545947177
PheGenIrs545947177
Biobankrs545947177
1000 genomesrs545947177
hgdprs545947177
ensemblrs545947177
gopubmedrs545947177
geneviewrs545947177
scholarrs545947177
googlers545947177
pharmgkbrs545947177
gwascentralrs545947177
openSNPrs545947177
23andMers545947177
23andMe allrs545947177
SNP Nexus

SNPshotrs545947177
SNPdbers545947177
MSV3drs545947177
GWAS Ctlgrs545947177
Max Magnitude0
ClinVar
Risk rs545947177(C;C)
Alt rs545947177(C;C)
Reference Rs545947177(A;A)
Significance Pathogenic
Disease Deafness Nonsyndromic hearing loss and deafness
Variation info
Gene ANAPC15 LRTOMT
CLNDBN Deafness, autosomal recessive 63 Nonsyndromic hearing loss and deafness
Reversed 0
HGVS NC_000011.9:g.71817260A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000156590.4, RCV000211724.1,