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rs587776514

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587776514(C;C)
Make rs587776514(C;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position116877954
GeneRFX6
is asnp
is mentioned by
dbSNPrs587776514
ebirs587776514
HLIrs587776514
Exacrs587776514
Varsomers587776514
Maprs587776514
PheGenIrs587776514
hapmaprs587776514
1000 genomesrs587776514
hgdprs587776514
ensemblrs587776514
gopubmedrs587776514
geneviewrs587776514
scholarrs587776514
googlers587776514
pharmgkbrs587776514
gwascentralrs587776514
openSNPrs587776514
23andMers587776514
23andMe allrs587776514
SNP Nexus

SNPshotrs587776514
SNPdbers587776514
MSV3drs587776514
GWAS Ctlgrs587776514
Max Magnitude0
ClinVar
Risk rs587776514(C;C)
Alt rs587776514(C;C)
Reference rs587776514(T;T)
Significance Pathogenic
Disease Mitchell-Riley syndrome
Variation info
Gene RFX6
CLNDBN Mitchell-Riley syndrome
Reversed 0
HGVS NC_000006.11:g.117199117T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000525.3,