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rs587776515

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587776515(A;G)
Make rs587776515(G;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position116877784
GeneRFX6
is asnp
is mentioned by
dbSNPrs587776515
ebirs587776515
HLIrs587776515
Exacrs587776515
Varsomers587776515
Maprs587776515
PheGenIrs587776515
hapmaprs587776515
1000 genomesrs587776515
hgdprs587776515
ensemblrs587776515
gopubmedrs587776515
geneviewrs587776515
scholarrs587776515
googlers587776515
pharmgkbrs587776515
gwascentralrs587776515
openSNPrs587776515
23andMers587776515
23andMe allrs587776515
SNP Nexus

SNPshotrs587776515
SNPdbers587776515
MSV3drs587776515
GWAS Ctlgrs587776515
Max Magnitude0
ClinVar
Risk rs587776515(G;G)
Alt rs587776515(G;G)
Reference rs587776515(A;A)
Significance Pathogenic
Disease Mitchell-Riley syndrome
Variation info
Gene RFX6
CLNDBN Mitchell-Riley syndrome
Reversed 0
HGVS NC_000006.11:g.117198947A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000526.4,