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rs80358274

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358274(A;A)
Make rs80358274(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40819416
GeneKCNQ4
is asnp
is mentioned by
dbSNPrs80358274
dbSNP (classic)rs80358274
ClinGenrs80358274
ebirs80358274
HLIrs80358274
Exacrs80358274
Gnomadrs80358274
Varsomers80358274
LitVarrs80358274
Maprs80358274
PheGenIrs80358274
Biobankrs80358274
1000 genomesrs80358274
hgdprs80358274
ensemblrs80358274
geneviewrs80358274
scholarrs80358274
googlers80358274
pharmgkbrs80358274
gwascentralrs80358274
openSNPrs80358274
23andMers80358274
SNPshotrs80358274
SNPdbers80358274
MSV3drs80358274
GWAS Ctlgrs80358274
Max Magnitude0
ClinVar
Risk rs80358274(A;A)
Alt rs80358274(A;A)
Reference Rs80358274(G;G)
Significance Pathogenic
Disease DFNA 2 Nonsyndromic Hearing Loss
Variation info
Gene KCNQ4
CLNDBN DFNA 2 Nonsyndromic Hearing Loss
Reversed 0
HGVS NC_000001.10:g.41285088G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020611.1,