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rs863225204

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225204(-;C)
Make rs863225204(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position58206342
GeneMKS1
is asnp
is mentioned by
dbSNPrs863225204
ClinGenrs863225204
ebirs863225204
HLIrs863225204
Exacrs863225204
Varsomers863225204
Maprs863225204
PheGenIrs863225204
hapmaprs863225204
1000 genomesrs863225204
hgdprs863225204
ensemblrs863225204
gopubmedrs863225204
geneviewrs863225204
scholarrs863225204
googlers863225204
pharmgkbrs863225204
gwascentralrs863225204
openSNPrs863225204
23andMers863225204
23andMe allrs863225204
SNP Nexus

SNPshotrs863225204
SNPdbers863225204
MSV3drs863225204
GWAS Ctlgrs863225204
Max Magnitude0
ClinVar
Risk rs863225204(C;C)
Alt rs863225204(C;C)
Reference Rs863225204(;)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene MKS1
CLNDBN Joubert syndrome
Reversed 1
HGVS NC_000017.10:g.56283704dupG
CLNSRC
CLNACC RCV000201584.1,