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rs797044972

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGCTGCCT;GGCTGCCT) 0 common in clinvar
Make rs797044972(-;-)
Make rs797044972(-;TGCCTGGC)
Make rs797044972(TGCCTGGC;TGCCTGGC)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position40822316
GeneKCNQ4
is asnp
is mentioned by
dbSNPrs797044972
ClinGenrs797044972
ebirs797044972
HLIrs797044972
Exacrs797044972
Varsomers797044972
Maprs797044972
PheGenIrs797044972
hapmaprs797044972
1000 genomesrs797044972
hgdprs797044972
ensemblrs797044972
gopubmedrs797044972
geneviewrs797044972
scholarrs797044972
googlers797044972
pharmgkbrs797044972
gwascentralrs797044972
openSNPrs797044972
23andMers797044972
23andMe allrs797044972
SNP Nexus

SNPshotrs797044972
SNPdbers797044972
MSV3drs797044972
GWAS Ctlgrs797044972
Max Magnitude0
ClinVar
Risk rs797044972(-;-)
Alt rs797044972(-;-)
Reference Rs797044972(GGCTGCCT;GGCTGCCT)
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.41287988_41287995delTGCCTGGC
CLNSRC
CLNACC RCV000194638.1,