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rs863225207

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225207(A;T)
Make rs863225207(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position58206172
GeneMKS1
is asnp
is mentioned by
dbSNPrs863225207
ebirs863225207
HLIrs863225207
Exacrs863225207
Varsomers863225207
Maprs863225207
PheGenIrs863225207
hapmaprs863225207
1000 genomesrs863225207
hgdprs863225207
ensemblrs863225207
gopubmedrs863225207
geneviewrs863225207
scholarrs863225207
googlers863225207
pharmgkbrs863225207
gwascentralrs863225207
openSNPrs863225207
23andMers863225207
23andMe allrs863225207
SNP Nexus

SNPshotrs863225207
SNPdbers863225207
MSV3drs863225207
GWAS Ctlgrs863225207
Max Magnitude0
ClinVar
Risk rs863225207(T;T)
Alt rs863225207(T;T)
Reference rs863225207(A;A)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene MKS1
CLNDBN Joubert syndrome
Reversed 1
HGVS NC_000017.10:g.56283533T>A
CLNSRC
CLNACC RCV000201731.1,