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rs75949023

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs75949023(G;T)
Make rs75949023(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position46524734
GeneLOXHD1
is asnp
is mentioned by
dbSNPrs75949023
ebirs75949023
HLIrs75949023
Exacrs75949023
Varsomers75949023
Maprs75949023
PheGenIrs75949023
hapmaprs75949023
1000 genomesrs75949023
hgdprs75949023
ensemblrs75949023
gopubmedrs75949023
geneviewrs75949023
scholarrs75949023
googlers75949023
pharmgkbrs75949023
gwascentralrs75949023
openSNPrs75949023
23andMers75949023
23andMe allrs75949023
SNP Nexus

SNPshotrs75949023
SNPdbers75949023
MSV3drs75949023
GWAS Ctlgrs75949023
GMAF0.02388
Max Magnitude0
ClinVar
Risk rs75949023(A,T;A,T)
Alt rs75949023(A,T;A,T)
Reference rs75949023(G;G)
Significance Pathogenic
Disease Deafness Non-syndromic genetic deafness not specified
Variation info
Gene LOXHD1
CLNDBN Deafness, autosomal recessive 77 Non-syndromic genetic deafness not specified
Reversed 0
HGVS NC_000018.9:g.44104697G>A; NC_000018.9:g.44104697G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023981.4, RCV000211793.1, RCV000225012.1, RCV000041212.3,