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rs797044967

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797044967(C;C)
Make rs797044967(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position40819446
GeneKCNQ4
is asnp
is mentioned by
dbSNPrs797044967
dbSNP (classic)rs797044967
ClinGenrs797044967
ebirs797044967
HLIrs797044967
Exacrs797044967
Gnomadrs797044967
Varsomers797044967
LitVarrs797044967
Maprs797044967
PheGenIrs797044967
Biobankrs797044967
1000 genomesrs797044967
hgdprs797044967
ensemblrs797044967
geneviewrs797044967
scholarrs797044967
googlers797044967
pharmgkbrs797044967
gwascentralrs797044967
openSNPrs797044967
23andMers797044967
SNPshotrs797044967
SNPdbers797044967
MSV3drs797044967
GWAS Ctlgrs797044967
Max Magnitude0
ClinVar
Risk rs797044967(C;C)
Alt rs797044967(C;C)
Reference Rs797044967(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.41285118T>C
CLNSRC
CLNACC RCV000192488.1,