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rs727503146

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503146(-;-)
Make rs727503146(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position46566391
GeneLOXHD1
is asnp
is mentioned by
dbSNPrs727503146
dbSNP (classic)rs727503146
ClinGenrs727503146
ebirs727503146
HLIrs727503146
Exacrs727503146
Gnomadrs727503146
Varsomers727503146
LitVarrs727503146
Maprs727503146
PheGenIrs727503146
Biobankrs727503146
1000 genomesrs727503146
hgdprs727503146
ensemblrs727503146
geneviewrs727503146
scholarrs727503146
googlers727503146
pharmgkbrs727503146
gwascentralrs727503146
openSNPrs727503146
23andMers727503146
SNPshotrs727503146
SNPdbers727503146
MSV3drs727503146
GWAS Ctlgrs727503146
Max Magnitude0
ClinVar
Risk rs727503146(-;-)
Alt rs727503146(-;-)
Reference Rs727503146(G;G)
Significance Pathogenic
Disease Nonsyndromic hearing loss and deafness
Variation info
Gene LOXHD1
CLNDBN Nonsyndromic hearing loss and deafness
Reversed 1
HGVS NC_000018.9:g.44146354delC
CLNSRC
CLNACC RCV000150981.1,