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rs863225210

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225210(C;T)
Make rs863225210(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position58207906
GeneMKS1
is asnp
is mentioned by
dbSNPrs863225210
ebirs863225210
HLIrs863225210
Exacrs863225210
Varsomers863225210
Maprs863225210
PheGenIrs863225210
hapmaprs863225210
1000 genomesrs863225210
hgdprs863225210
ensemblrs863225210
gopubmedrs863225210
geneviewrs863225210
scholarrs863225210
googlers863225210
pharmgkbrs863225210
gwascentralrs863225210
openSNPrs863225210
23andMers863225210
23andMe allrs863225210
SNP Nexus

SNPshotrs863225210
SNPdbers863225210
MSV3drs863225210
GWAS Ctlgrs863225210
Max Magnitude0
ClinVar
Risk rs863225210(T;T)
Alt rs863225210(T;T)
Reference Rs863225210(C;C)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene MKS1
CLNDBN Joubert syndrome
Reversed 1
HGVS NC_000017.10:g.56285267G>A
CLNSRC
CLNACC RCV000201767.1,