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rs773269657

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs773269657(A;A)
Make rs773269657(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position58207103
GeneMKS1
is asnp
is mentioned by
dbSNPrs773269657
ebirs773269657
HLIrs773269657
Exacrs773269657
Varsomers773269657
Maprs773269657
PheGenIrs773269657
hapmaprs773269657
1000 genomesrs773269657
hgdprs773269657
ensemblrs773269657
gopubmedrs773269657
geneviewrs773269657
scholarrs773269657
googlers773269657
pharmgkbrs773269657
gwascentralrs773269657
openSNPrs773269657
23andMers773269657
23andMe allrs773269657
SNP Nexus

SNPshotrs773269657
SNPdbers773269657
MSV3drs773269657
GWAS Ctlgrs773269657
Max Magnitude0
ClinVar
Risk rs773269657(A;A)
Alt rs773269657(A;A)
Reference rs773269657(C;C)
Significance Probable-Pathogenic
Disease Joubert syndrome
Variation info
Gene MKS1
CLNDBN Joubert syndrome
Reversed 0
HGVS NC_000017.10:g.56284464C>A
CLNSRC
CLNACC RCV000201691.1,