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rs375916159

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs375916159(G;T)
Make rs375916159(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position76482759
GeneESRRB
is asnp
is mentioned by
dbSNPrs375916159
dbSNP (classic)rs375916159
ClinGenrs375916159
ebirs375916159
HLIrs375916159
Exacrs375916159
Gnomadrs375916159
Varsomers375916159
LitVarrs375916159
Maprs375916159
PheGenIrs375916159
Biobankrs375916159
1000 genomesrs375916159
hgdprs375916159
ensemblrs375916159
geneviewrs375916159
scholarrs375916159
googlers375916159
pharmgkbrs375916159
gwascentralrs375916159
openSNPrs375916159
23andMers375916159
SNPshotrs375916159
SNPdbers375916159
MSV3drs375916159
GWAS Ctlgrs375916159
Max Magnitude0
ClinVar
Risk rs375916159(A;A) rs375916159(T;T)
Alt rs375916159(A;A) rs375916159(T;T)
Reference Rs375916159(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene ESRRB
CLNDBN Deafness, autosomal recessive 35
Reversed 0
HGVS NC_000014.8:g.76949102G>A
CLNSRC
CLNACC RCV000454210.1,