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rs797044971

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044971(G;T)
Make rs797044971(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position40819931
GeneKCNQ4
is asnp
is mentioned by
dbSNPrs797044971
ebirs797044971
HLIrs797044971
Exacrs797044971
Varsomers797044971
Maprs797044971
PheGenIrs797044971
hapmaprs797044971
1000 genomesrs797044971
hgdprs797044971
ensemblrs797044971
gopubmedrs797044971
geneviewrs797044971
scholarrs797044971
googlers797044971
pharmgkbrs797044971
gwascentralrs797044971
openSNPrs797044971
23andMers797044971
23andMe allrs797044971
SNP Nexus

SNPshotrs797044971
SNPdbers797044971
MSV3drs797044971
GWAS Ctlgrs797044971
Max Magnitude0
ClinVar
Risk rs797044971(T;T)
Alt rs797044971(T;T)
Reference rs797044971(G;G)
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.41285603G>T
CLNSRC
CLNACC RCV000193774.1,