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rs863225208

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225208(A;A)
Make rs863225208(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position58210988
GeneMKS1
is asnp
is mentioned by
dbSNPrs863225208
ebirs863225208
HLIrs863225208
Exacrs863225208
Varsomers863225208
Maprs863225208
PheGenIrs863225208
hapmaprs863225208
1000 genomesrs863225208
hgdprs863225208
ensemblrs863225208
gopubmedrs863225208
geneviewrs863225208
scholarrs863225208
googlers863225208
pharmgkbrs863225208
gwascentralrs863225208
openSNPrs863225208
23andMers863225208
23andMe allrs863225208
SNP Nexus

SNPshotrs863225208
SNPdbers863225208
MSV3drs863225208
GWAS Ctlgrs863225208
Max Magnitude0
ClinVar
Risk rs863225208(A;A)
Alt rs863225208(A;A)
Reference rs863225208(G;G)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene MKS1
CLNDBN Joubert syndrome
Reversed 1
HGVS NC_000017.10:g.56288349C>T
CLNSRC
CLNACC RCV000201588.1,