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rs267607012

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607012(C;C)
Make rs267607012(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position116895184
GeneRFX6
is asnp
is mentioned by
dbSNPrs267607012
ebirs267607012
HLIrs267607012
Exacrs267607012
Varsomers267607012
Maprs267607012
PheGenIrs267607012
hapmaprs267607012
1000 genomesrs267607012
hgdprs267607012
ensemblrs267607012
gopubmedrs267607012
geneviewrs267607012
scholarrs267607012
googlers267607012
pharmgkbrs267607012
gwascentralrs267607012
openSNPrs267607012
23andMers267607012
23andMe allrs267607012
SNP Nexus

SNPshotrs267607012
SNPdbers267607012
MSV3drs267607012
GWAS Ctlgrs267607012
Max Magnitude0
ClinVar
Risk rs267607012(C;C)
Alt rs267607012(C;C)
Reference rs267607012(T;T)
Significance Pathogenic
Disease Mitchell-Riley syndrome
Variation info
Gene RFX6
CLNDBN Mitchell-Riley syndrome
Reversed 0
HGVS NC_000006.11:g.117216347T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000528.3,