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rs797044960

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044960(A;A)
Make rs797044960(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position60648817
GeneSIX1
is asnp
is mentioned by
dbSNPrs797044960
dbSNP (classic)rs797044960
ClinGenrs797044960
ebirs797044960
HLIrs797044960
Exacrs797044960
Gnomadrs797044960
Varsomers797044960
LitVarrs797044960
Maprs797044960
PheGenIrs797044960
Biobankrs797044960
1000 genomesrs797044960
hgdprs797044960
ensemblrs797044960
geneviewrs797044960
scholarrs797044960
googlers797044960
pharmgkbrs797044960
gwascentralrs797044960
openSNPrs797044960
23andMers797044960
SNPshotrs797044960
SNPdbers797044960
MSV3drs797044960
GWAS Ctlgrs797044960
Max Magnitude0
ClinVar
Risk rs797044960(A;A)
Alt rs797044960(A;A)
Reference Rs797044960(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene SIX1
CLNDBN Deafness, autosomal dominant 23
Reversed 1
HGVS NC_000014.8:g.61115535C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190433.3,