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rs797044970

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044970(C;T)
Make rs797044970(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position40819912
GeneKCNQ4
is asnp
is mentioned by
dbSNPrs797044970
dbSNP (classic)rs797044970
ClinGenrs797044970
ebirs797044970
HLIrs797044970
Exacrs797044970
Gnomadrs797044970
Varsomers797044970
LitVarrs797044970
Maprs797044970
PheGenIrs797044970
Biobankrs797044970
1000 genomesrs797044970
hgdprs797044970
ensemblrs797044970
geneviewrs797044970
scholarrs797044970
googlers797044970
pharmgkbrs797044970
gwascentralrs797044970
openSNPrs797044970
23andMers797044970
SNPshotrs797044970
SNPdbers797044970
MSV3drs797044970
GWAS Ctlgrs797044970
Max Magnitude0
ClinVar
Risk rs797044970(T;T)
Alt rs797044970(T;T)
Reference Rs797044970(C;C)
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.41285584C>T
CLNSRC
CLNACC RCV000192551.1,