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rs121909770

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909770(A;A)
Make rs121909770(A;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position60648826
GeneSIX1
is asnp
is mentioned by
dbSNPrs121909770
dbSNP (classic)rs121909770
ClinGenrs121909770
ebirs121909770
HLIrs121909770
Exacrs121909770
Gnomadrs121909770
Varsomers121909770
LitVarrs121909770
Maprs121909770
PheGenIrs121909770
Biobankrs121909770
1000 genomesrs121909770
hgdprs121909770
ensemblrs121909770
geneviewrs121909770
scholarrs121909770
googlers121909770
pharmgkbrs121909770
gwascentralrs121909770
openSNPrs121909770
23andMers121909770
SNPshotrs121909770
SNPdbers121909770
MSV3drs121909770
GWAS Ctlgrs121909770
Max Magnitude0
OMIM601205
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909770(A;A)
Alt rs121909770(A;A)
Reference Rs121909770(T;T)
Significance Pathogenic
Disease Branchiootic syndrome 3
Variation info
Gene SIX1
CLNDBN Branchiootic syndrome 3
Reversed 1
HGVS NC_000014.8:g.61115544A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008809.3,