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rs144648002

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs144648002(C;G)
Make rs144648002(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position116927317
GeneRFX6
is asnp
is mentioned by
dbSNPrs144648002
ebirs144648002
HLIrs144648002
Exacrs144648002
Varsomers144648002
Maprs144648002
PheGenIrs144648002
hapmaprs144648002
1000 genomesrs144648002
hgdprs144648002
ensemblrs144648002
gopubmedrs144648002
geneviewrs144648002
scholarrs144648002
googlers144648002
pharmgkbrs144648002
gwascentralrs144648002
openSNPrs144648002
23andMers144648002
23andMe allrs144648002
SNP Nexus

SNPshotrs144648002
SNPdbers144648002
MSV3drs144648002
GWAS Ctlgrs144648002
Max Magnitude0
ClinVar
Risk rs144648002(G,T;G,T)
Alt rs144648002(G,T;G,T)
Reference rs144648002(C;C)
Significance Pathogenic
Disease Mitchell-Riley syndrome
Variation info
Gene RFX6
CLNDBN Mitchell-Riley syndrome
Reversed 0
HGVS NC_000006.11:g.117248480C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000208877.1,