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rs863225209

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225209(-;C)
Make rs863225209(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position58213072
GeneMKS1
is asnp
is mentioned by
dbSNPrs863225209
ClinGenrs863225209
ebirs863225209
HLIrs863225209
Exacrs863225209
Varsomers863225209
Maprs863225209
PheGenIrs863225209
hapmaprs863225209
1000 genomesrs863225209
hgdprs863225209
ensemblrs863225209
gopubmedrs863225209
geneviewrs863225209
scholarrs863225209
googlers863225209
pharmgkbrs863225209
gwascentralrs863225209
openSNPrs863225209
23andMers863225209
23andMe allrs863225209
SNP Nexus

SNPshotrs863225209
SNPdbers863225209
MSV3drs863225209
GWAS Ctlgrs863225209
Max Magnitude0
ClinVar
Risk rs863225209(C;C)
Alt rs863225209(C;C)
Reference Rs863225209(;)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene MKS1
CLNDBN Joubert syndrome
Reversed 1
HGVS NC_000017.10:g.56290433_56290434insG
CLNSRC
CLNACC RCV000201675.1,