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rs779953982

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs779953982(A;A)
Make rs779953982(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position58214763
GeneMKS1
is asnp
is mentioned by
dbSNPrs779953982
ebirs779953982
HLIrs779953982
Exacrs779953982
Varsomers779953982
Maprs779953982
PheGenIrs779953982
hapmaprs779953982
1000 genomesrs779953982
hgdprs779953982
ensemblrs779953982
gopubmedrs779953982
geneviewrs779953982
scholarrs779953982
googlers779953982
pharmgkbrs779953982
gwascentralrs779953982
openSNPrs779953982
23andMers779953982
23andMe allrs779953982
SNP Nexus

SNPshotrs779953982
SNPdbers779953982
MSV3drs779953982
GWAS Ctlgrs779953982
Max Magnitude0
ClinVar
Risk rs779953982(A;A)
Alt rs779953982(A;A)
Reference rs779953982(G;G)
Significance Probable-Pathogenic
Disease Joubert syndrome
Variation info
Gene MKS1
CLNDBN Joubert syndrome
Reversed 0
HGVS NC_000017.10:g.56292124G>A
CLNSRC
CLNACC RCV000201596.1,