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rs121918370

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918370(C;T)
Make rs121918370(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position46572125
GeneLOXHD1
is asnp
is mentioned by
dbSNPrs121918370
dbSNP (classic)rs121918370
ClinGenrs121918370
ebirs121918370
HLIrs121918370
Exacrs121918370
Gnomadrs121918370
Varsomers121918370
LitVarrs121918370
Maprs121918370
PheGenIrs121918370
Biobankrs121918370
1000 genomesrs121918370
hgdprs121918370
ensemblrs121918370
geneviewrs121918370
scholarrs121918370
googlers121918370
pharmgkbrs121918370
gwascentralrs121918370
openSNPrs121918370
23andMers121918370
SNPshotrs121918370
SNPdbers121918370
MSV3drs121918370
GWAS Ctlgrs121918370
Max Magnitude0
OMIM613072
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918370(T;T)
Alt rs121918370(T;T)
Reference Rs121918370(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene LOXHD1
CLNDBN Deafness, autosomal recessive 77
Reversed 1
HGVS NC_000018.9:g.44152088G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000426.3,