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rs201587138

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201587138(A;A)
Make rs201587138(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position46529227
GeneLOXHD1
is asnp
is mentioned by
dbSNPrs201587138
ebirs201587138
HLIrs201587138
Exacrs201587138
Varsomers201587138
Maprs201587138
PheGenIrs201587138
hapmaprs201587138
1000 genomesrs201587138
hgdprs201587138
ensemblrs201587138
gopubmedrs201587138
geneviewrs201587138
scholarrs201587138
googlers201587138
pharmgkbrs201587138
gwascentralrs201587138
openSNPrs201587138
23andMers201587138
23andMe allrs201587138
SNP Nexus

SNPshotrs201587138
SNPdbers201587138
MSV3drs201587138
GWAS Ctlgrs201587138
Max Magnitude0
ClinVar
Risk rs201587138(A;A)
Alt rs201587138(A;A)
Reference rs201587138(G;G)
Significance Pathogenic
Disease Non-syndromic genetic deafness Deafness
Variation info
Gene LOXHD1
CLNDBN Non-syndromic genetic deafness Deafness, autosomal recessive 77
Reversed 0
HGVS NC_000018.9:g.44109190G>A
CLNSRC
CLNACC RCV000155144.2, RCV000225012.1,