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rs780027419

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs780027419(C;G)
Make rs780027419(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position83509201
GenePOU3F4
is asnp
is mentioned by
dbSNPrs780027419
dbSNP (classic)rs780027419
ClinGenrs780027419
ebirs780027419
HLIrs780027419
Exacrs780027419
Gnomadrs780027419
Varsomers780027419
LitVarrs780027419
Maprs780027419
PheGenIrs780027419
Biobankrs780027419
1000 genomesrs780027419
hgdprs780027419
ensemblrs780027419
geneviewrs780027419
scholarrs780027419
googlers780027419
pharmgkbrs780027419
gwascentralrs780027419
openSNPrs780027419
23andMers780027419
SNPshotrs780027419
SNPdbers780027419
MSV3drs780027419
GWAS Ctlgrs780027419
Max Magnitude0
ClinVar
Risk rs780027419(G;G) rs780027419(T;T)
Alt rs780027419(G;G) rs780027419(T;T)
Reference Rs780027419(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene POU3F4
CLNDBN Deafness, X-linked 2
Reversed 0
HGVS NC_000023.10:g.82764209C>G
CLNSRC
CLNACC RCV000474747.1,