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rs587780440

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587780440(C;T)
Make rs587780440(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position116882403
GeneRFX6
is asnp
is mentioned by
dbSNPrs587780440
ebirs587780440
HLIrs587780440
Exacrs587780440
Varsomers587780440
Maprs587780440
PheGenIrs587780440
hapmaprs587780440
1000 genomesrs587780440
hgdprs587780440
ensemblrs587780440
gopubmedrs587780440
geneviewrs587780440
scholarrs587780440
googlers587780440
pharmgkbrs587780440
gwascentralrs587780440
openSNPrs587780440
23andMers587780440
23andMe allrs587780440
SNP Nexus

SNPshotrs587780440
SNPdbers587780440
MSV3drs587780440
GWAS Ctlgrs587780440
Max Magnitude0
ClinVar
Risk rs587780440(T;T)
Alt rs587780440(T;T)
Reference rs587780440(C;C)
Significance Probable-Pathogenic
Disease Mitchell-Riley syndrome
Variation info
Gene RFX6
CLNDBN Mitchell-Riley syndrome
Reversed 0
HGVS NC_000006.11:g.117203566C>T
CLNSRC
CLNACC RCV000118186.1,