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rs797044969

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044969(C;T)
Make rs797044969(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position40819911
GeneKCNQ4
is asnp
is mentioned by
dbSNPrs797044969
dbSNP (classic)rs797044969
ClinGenrs797044969
ebirs797044969
HLIrs797044969
Exacrs797044969
Gnomadrs797044969
Varsomers797044969
LitVarrs797044969
Maprs797044969
PheGenIrs797044969
Biobankrs797044969
1000 genomesrs797044969
hgdprs797044969
ensemblrs797044969
geneviewrs797044969
scholarrs797044969
googlers797044969
pharmgkbrs797044969
gwascentralrs797044969
openSNPrs797044969
23andMers797044969
SNPshotrs797044969
SNPdbers797044969
MSV3drs797044969
GWAS Ctlgrs797044969
Max Magnitude0
ClinVar
Risk rs797044969(T;T)
Alt rs797044969(T;T)
Reference Rs797044969(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.41285583C>T
CLNSRC
CLNACC RCV000194192.1,