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rs773684291

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs773684291(A;A)
Make rs773684291(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position58207959
GeneMKS1
is asnp
is mentioned by
dbSNPrs773684291
ebirs773684291
HLIrs773684291
Exacrs773684291
Varsomers773684291
Maprs773684291
PheGenIrs773684291
hapmaprs773684291
1000 genomesrs773684291
hgdprs773684291
ensemblrs773684291
gopubmedrs773684291
geneviewrs773684291
scholarrs773684291
googlers773684291
pharmgkbrs773684291
gwascentralrs773684291
openSNPrs773684291
23andMers773684291
23andMe allrs773684291
SNP Nexus

SNPshotrs773684291
SNPdbers773684291
MSV3drs773684291
GWAS Ctlgrs773684291
Max Magnitude0
ClinVar
Risk rs773684291(A,C;A,C)
Alt rs773684291(A,C;A,C)
Reference rs773684291(G;G)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene MKS1
CLNDBN Joubert syndrome
Reversed 0
HGVS NC_000017.10:g.56285320G>A
CLNSRC
CLNACC RCV000201754.1,