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rs727504577

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CGGCC;CGGCC) 0 common in clinvar
Make rs727504577(-;-)
Make rs727504577(-;CGGCC)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position76498361
GeneESRRB
is asnp
is mentioned by
dbSNPrs727504577
dbSNP (classic)rs727504577
ClinGenrs727504577
ebirs727504577
HLIrs727504577
Exacrs727504577
Gnomadrs727504577
Varsomers727504577
LitVarrs727504577
Maprs727504577
PheGenIrs727504577
Biobankrs727504577
1000 genomesrs727504577
hgdprs727504577
ensemblrs727504577
geneviewrs727504577
scholarrs727504577
googlers727504577
pharmgkbrs727504577
gwascentralrs727504577
openSNPrs727504577
23andMers727504577
SNPshotrs727504577
SNPdbers727504577
MSV3drs727504577
GWAS Ctlgrs727504577
Max Magnitude0
ClinVar
Risk rs727504577(-;-)
Alt rs727504577(-;-)
Reference Rs727504577(CGGCC;CGGCC)
Significance Probable-Pathogenic
Disease Nonsyndromic hearing loss and deafness
Variation info
Gene ESRRB
CLNDBN Nonsyndromic hearing loss and deafness
Reversed 0
HGVS NC_000014.8:g.76964704_76964708delCGGCC
CLNSRC
CLNACC RCV000155747.1,