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rs797044968

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797044968(C;C)
Make rs797044968(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position40819461
GeneKCNQ4
is asnp
is mentioned by
dbSNPrs797044968
dbSNP (classic)rs797044968
ClinGenrs797044968
ebirs797044968
HLIrs797044968
Exacrs797044968
Gnomadrs797044968
Varsomers797044968
LitVarrs797044968
Maprs797044968
PheGenIrs797044968
Biobankrs797044968
1000 genomesrs797044968
hgdprs797044968
ensemblrs797044968
geneviewrs797044968
scholarrs797044968
googlers797044968
pharmgkbrs797044968
gwascentralrs797044968
openSNPrs797044968
23andMers797044968
SNPshotrs797044968
SNPdbers797044968
MSV3drs797044968
GWAS Ctlgrs797044968
Max Magnitude0
ClinVar
Risk rs797044968(C;C)
Alt rs797044968(C;C)
Reference Rs797044968(T;T)
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.41285133T>C
CLNSRC
CLNACC RCV000193712.1,