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rs768835732

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs768835732(C;T)
Make rs768835732(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position46524499
GeneLOXHD1
is asnp
is mentioned by
dbSNPrs768835732
dbSNP (classic)rs768835732
ClinGenrs768835732
ebirs768835732
HLIrs768835732
Exacrs768835732
Gnomadrs768835732
Varsomers768835732
LitVarrs768835732
Maprs768835732
PheGenIrs768835732
Biobankrs768835732
1000 genomesrs768835732
hgdprs768835732
ensemblrs768835732
geneviewrs768835732
scholarrs768835732
googlers768835732
pharmgkbrs768835732
gwascentralrs768835732
openSNPrs768835732
23andMers768835732
SNPshotrs768835732
SNPdbers768835732
MSV3drs768835732
GWAS Ctlgrs768835732
Max Magnitude0
ClinVar
Risk rs768835732(G;G) rs768835732(T;T)
Alt rs768835732(G;G) rs768835732(T;T)
Reference Rs768835732(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene LOXHD1
CLNDBN Deafness, autosomal recessive 77
Reversed 0
HGVS NC_000018.9:g.44104462C>T
CLNSRC
CLNACC RCV000454364.1,