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rs1060499595

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060499595(A;T)
Make rs1060499595(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position60648730
GeneSIX1
is asnp
is mentioned by
dbSNPrs1060499595
dbSNP (classic)rs1060499595
ClinGenrs1060499595
ebirs1060499595
HLIrs1060499595
Exacrs1060499595
Gnomadrs1060499595
Varsomers1060499595
LitVarrs1060499595
Maprs1060499595
PheGenIrs1060499595
Biobankrs1060499595
1000 genomesrs1060499595
hgdprs1060499595
ensemblrs1060499595
geneviewrs1060499595
scholarrs1060499595
googlers1060499595
pharmgkbrs1060499595
gwascentralrs1060499595
openSNPrs1060499595
23andMers1060499595
SNPshotrs1060499595
SNPdbers1060499595
MSV3drs1060499595
GWAS Ctlgrs1060499595
Max Magnitude0
ClinVar
Risk rs1060499595(T;T)
Alt rs1060499595(T;T)
Reference Rs1060499595(A;A)
Significance Probable-Pathogenic
Disease Branchiootic syndrome 3 Deafness
Variation info
Gene SIX1
CLNDBN Branchiootic syndrome 3 Deafness, autosomal dominant 23
Reversed 1
HGVS NC_000014.8:g.61115448T>A
CLNSRC
CLNACC RCV000477918.1,