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rs80358275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80358275(A;T)
Make rs80358275(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40819423
GeneKCNQ4
is asnp
is mentioned by
dbSNPrs80358275
ebirs80358275
HLIrs80358275
Exacrs80358275
Varsomers80358275
Maprs80358275
PheGenIrs80358275
hapmaprs80358275
1000 genomesrs80358275
hgdprs80358275
ensemblrs80358275
gopubmedrs80358275
geneviewrs80358275
scholarrs80358275
googlers80358275
pharmgkbrs80358275
gwascentralrs80358275
openSNPrs80358275
23andMers80358275
23andMe allrs80358275
SNP Nexus

SNPshotrs80358275
SNPdbers80358275
MSV3drs80358275
GWAS Ctlgrs80358275
Max Magnitude0
ClinVar
Risk rs80358275(T;T)
Alt rs80358275(T;T)
Reference rs80358275(A;A)
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.41285095A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020612.1,