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rs878853231

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs878853231(-;G)
Make rs878853231(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome18
Position46485120
GeneLOXHD1
is asnp
is mentioned by
dbSNPrs878853231
dbSNP (classic)rs878853231
ClinGenrs878853231
ebirs878853231
HLIrs878853231
Exacrs878853231
Gnomadrs878853231
Varsomers878853231
LitVarrs878853231
Maprs878853231
PheGenIrs878853231
Biobankrs878853231
1000 genomesrs878853231
hgdprs878853231
ensemblrs878853231
geneviewrs878853231
scholarrs878853231
googlers878853231
pharmgkbrs878853231
gwascentralrs878853231
openSNPrs878853231
23andMers878853231
SNPshotrs878853231
SNPdbers878853231
MSV3drs878853231
GWAS Ctlgrs878853231
Max Magnitude0
ClinVar
Risk rs878853231(G;G)
Alt rs878853231(G;G)
Reference Rs878853231(-;-)
Significance Pathogenic
Disease Deafness
Variation info
Gene LOXHD1
CLNDBN Deafness, autosomal recessive 77
Reversed 1
HGVS NC_000018.9:g.44065084dupC
CLNSRC
CLNACC RCV000225070.1,