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rs863225205

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225205(G;T)
Make rs863225205(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position58219176
GeneLOC105371841, MKS1
is asnp
is mentioned by
dbSNPrs863225205
ebirs863225205
HLIrs863225205
Exacrs863225205
Varsomers863225205
Maprs863225205
PheGenIrs863225205
hapmaprs863225205
1000 genomesrs863225205
hgdprs863225205
ensemblrs863225205
gopubmedrs863225205
geneviewrs863225205
scholarrs863225205
googlers863225205
pharmgkbrs863225205
gwascentralrs863225205
openSNPrs863225205
23andMers863225205
23andMe allrs863225205
SNP Nexus

SNPshotrs863225205
SNPdbers863225205
MSV3drs863225205
GWAS Ctlgrs863225205
Max Magnitude0
ClinVar
Risk rs863225205(T;T)
Alt rs863225205(T;T)
Reference rs863225205(G;G)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene MKS1
CLNDBN Joubert syndrome
Reversed 1
HGVS NC_000017.10:g.56296537C>A
CLNSRC
CLNACC RCV000201752.1,