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rs727505104

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727505104(C;T)
Make rs727505104(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position46559495
GeneLOXHD1
is asnp
is mentioned by
dbSNPrs727505104
dbSNP (classic)rs727505104
ClinGenrs727505104
ebirs727505104
HLIrs727505104
Exacrs727505104
Gnomadrs727505104
Varsomers727505104
LitVarrs727505104
Maprs727505104
PheGenIrs727505104
Biobankrs727505104
1000 genomesrs727505104
hgdprs727505104
ensemblrs727505104
geneviewrs727505104
scholarrs727505104
googlers727505104
pharmgkbrs727505104
gwascentralrs727505104
openSNPrs727505104
23andMers727505104
SNPshotrs727505104
SNPdbers727505104
MSV3drs727505104
GWAS Ctlgrs727505104
Max Magnitude0
ClinVar
Risk rs727505104(T;T)
Alt rs727505104(T;T)
Reference Rs727505104(C;C)
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.44139458G>A
CLNSRC
CLNACC RCV000156553.1,