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rs748123571

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs748123571(-;-)
Make rs748123571(-;GC)
Make rs748123571(GC;GC)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position40784322
GeneKCNQ4
is asnp
is mentioned by
dbSNPrs748123571
ebirs748123571
HLIrs748123571
Exacrs748123571
Varsomers748123571
Maprs748123571
PheGenIrs748123571
hapmaprs748123571
1000 genomesrs748123571
hgdprs748123571
ensemblrs748123571
gopubmedrs748123571
geneviewrs748123571
scholarrs748123571
googlers748123571
pharmgkbrs748123571
gwascentralrs748123571
openSNPrs748123571
23andMers748123571
23andMe allrs748123571
SNP Nexus

SNPshotrs748123571
SNPdbers748123571
MSV3drs748123571
GWAS Ctlgrs748123571
Max Magnitude0
ClinVar
Risk rs748123571(CGC,CT;CGC,CT)
Alt rs748123571(CGC,CT;CGC,CT)
Reference rs748123571(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.41249993_41249994dupGC
CLNSRC
CLNACC RCV000195229.1,