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rs137853188

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853188(C;G)
Make rs137853188(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position72106185
GeneANAPC15, LRTOMT
is asnp
is mentioned by
dbSNPrs137853188
dbSNP (classic)rs137853188
ClinGenrs137853188
ebirs137853188
HLIrs137853188
Exacrs137853188
Gnomadrs137853188
Varsomers137853188
LitVarrs137853188
Maprs137853188
PheGenIrs137853188
Biobankrs137853188
1000 genomesrs137853188
hgdprs137853188
ensemblrs137853188
geneviewrs137853188
scholarrs137853188
googlers137853188
pharmgkbrs137853188
gwascentralrs137853188
openSNPrs137853188
23andMers137853188
SNPshotrs137853188
SNPdbers137853188
MSV3drs137853188
GWAS Ctlgrs137853188
Max Magnitude0
OMIM612414
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137853188(G;G)
Alt rs137853188(G;G)
Reference Rs137853188(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene ANAPC15 LRTOMT
CLNDBN Deafness, autosomal recessive 63
Reversed 0
HGVS NC_000011.9:g.71817231C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000576.2,