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rs587776517

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACAAGGTATCAATT;ACAAGGTATCAATT) 0 common in clinvar
Make rs587776517(-;-)
Make rs587776517(-;AGGTATCAATTACA)
Make rs587776517(AGGTATCAATTACA;AGGTATCAATTACA)
ReferenceGRCh38 38.1/142
Chromosome6
Position116911041
GeneRFX6
is asnp
is mentioned by
dbSNPrs587776517
dbSNP (old)rs587776517
ClinGenrs587776517
ebirs587776517
HLIrs587776517
Exacrs587776517
Varsomers587776517
Maprs587776517
PheGenIrs587776517
Biobankrs587776517
1000 genomesrs587776517
hgdprs587776517
ensemblrs587776517
gopubmedrs587776517
geneviewrs587776517
scholarrs587776517
googlers587776517
pharmgkbrs587776517
gwascentralrs587776517
openSNPrs587776517
23andMers587776517
23andMe allrs587776517
SNP Nexus

SNPshotrs587776517
SNPdbers587776517
MSV3drs587776517
GWAS Ctlgrs587776517
Max Magnitude0
ClinVar
Risk rs587776517(-;-)
Alt rs587776517(-;-)
Reference Rs587776517(ACAAGGTATCAATT;ACAAGGTATCAATT)
Significance Pathogenic
Disease Mitchell-Riley syndrome
Variation info
Gene RFX6
CLNDBN Mitchell-Riley syndrome
Reversed 0
HGVS NC_000006.11:g.117232204_117232217delAGGTATCAATTACA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000530.3,