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rs137853185

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853185(A;A)
Make rs137853185(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position72106094
GeneANAPC15, LRTOMT
is asnp
is mentioned by
dbSNPrs137853185
dbSNP (classic)rs137853185
ClinGenrs137853185
ebirs137853185
HLIrs137853185
Exacrs137853185
Gnomadrs137853185
Varsomers137853185
LitVarrs137853185
Maprs137853185
PheGenIrs137853185
Biobankrs137853185
1000 genomesrs137853185
hgdprs137853185
ensemblrs137853185
geneviewrs137853185
scholarrs137853185
googlers137853185
pharmgkbrs137853185
gwascentralrs137853185
openSNPrs137853185
23andMers137853185
SNPshotrs137853185
SNPdbers137853185
MSV3drs137853185
GWAS Ctlgrs137853185
Max Magnitude0
OMIM612414
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853185(A;A)
Alt rs137853185(A;A)
Reference Rs137853185(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene ANAPC15 LRTOMT
CLNDBN Deafness, autosomal recessive 63
Reversed 0
HGVS NC_000011.9:g.71817140G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000573.2,