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rs211694397

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs211694397(A;A)
Make rs211694397(A;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position64235081
GeneESR2
is asnp
is mentioned by
dbSNPrs211694397
dbSNP (classic)rs211694397
ClinGenrs211694397
ebirs211694397
HLIrs211694397
Exacrs211694397
Gnomadrs211694397
Varsomers211694397
LitVarrs211694397
Maprs211694397
PheGenIrs211694397
Biobankrs211694397
1000 genomesrs211694397
hgdprs211694397
ensemblrs211694397
geneviewrs211694397
scholarrs211694397
googlers211694397
pharmgkbrs211694397
gwascentralrs211694397
openSNPrs211694397
23andMers211694397
SNPshotrs211694397
SNPdbers211694397
MSV3drs211694397
GWAS Ctlgrs211694397
Max Magnitude0
ClinVar
Risk rs211694397(A;A)
Alt rs211694397(A;A)
Reference Rs211694397(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene ESR2
CLNDBN Deafness, autosomal recessive 35
Reversed 1
HGVS NC_000014.8:g.64701799G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007927.2,