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rs267607013

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607013(A;A)
Make rs267607013(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position116882404
GeneRFX6
is asnp
is mentioned by
dbSNPrs267607013
ebirs267607013
HLIrs267607013
Exacrs267607013
Varsomers267607013
Maprs267607013
PheGenIrs267607013
hapmaprs267607013
1000 genomesrs267607013
hgdprs267607013
ensemblrs267607013
gopubmedrs267607013
geneviewrs267607013
scholarrs267607013
googlers267607013
pharmgkbrs267607013
gwascentralrs267607013
openSNPrs267607013
23andMers267607013
23andMe allrs267607013
SNP Nexus

SNPshotrs267607013
SNPdbers267607013
MSV3drs267607013
GWAS Ctlgrs267607013
Max Magnitude0
ClinVar
Risk rs267607013(A;A)
Alt rs267607013(A;A)
Reference rs267607013(G;G)
Significance Pathogenic
Disease Mitchell-Riley syndrome
Variation info
Gene RFX6
CLNDBN Mitchell-Riley syndrome
Reversed 0
HGVS NC_000006.11:g.117203567G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000529.3,