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rs587776516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587776516(G;G)
Make rs587776516(G;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position116895209
GeneRFX6
is asnp
is mentioned by
dbSNPrs587776516
ebirs587776516
HLIrs587776516
Exacrs587776516
Varsomers587776516
Maprs587776516
PheGenIrs587776516
hapmaprs587776516
1000 genomesrs587776516
hgdprs587776516
ensemblrs587776516
gopubmedrs587776516
geneviewrs587776516
scholarrs587776516
googlers587776516
pharmgkbrs587776516
gwascentralrs587776516
openSNPrs587776516
23andMers587776516
23andMe allrs587776516
SNP Nexus

SNPshotrs587776516
SNPdbers587776516
MSV3drs587776516
GWAS Ctlgrs587776516
Max Magnitude0
ClinVar
Risk rs587776516(G;G)
Alt rs587776516(G;G)
Reference rs587776516(T;T)
Significance Pathogenic
Disease Mitchell-Riley syndrome
Variation info
Gene RFX6
CLNDBN Mitchell-Riley syndrome
Reversed 0
HGVS NC_000006.11:g.117216372T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000527.4,