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rs201097695

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201097695(C;G)
Make rs201097695(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position58444011
GeneKIAA0586
is asnp
is mentioned by
dbSNPrs201097695
ebirs201097695
HLIrs201097695
Exacrs201097695
Varsomers201097695
Maprs201097695
PheGenIrs201097695
hapmaprs201097695
1000 genomesrs201097695
hgdprs201097695
ensemblrs201097695
gopubmedrs201097695
geneviewrs201097695
scholarrs201097695
googlers201097695
pharmgkbrs201097695
gwascentralrs201097695
openSNPrs201097695
23andMers201097695
23andMe allrs201097695
SNP Nexus

SNPshotrs201097695
SNPdbers201097695
MSV3drs201097695
GWAS Ctlgrs201097695
Max Magnitude0
ClinVar
Risk rs201097695(G,T;G,T)
Alt rs201097695(G,T;G,T)
Reference rs201097695(C;C)
Significance Pathogenic
Disease Joubert syndrome 23
Variation info
Gene KIAA0586
CLNDBN Joubert syndrome 23
Reversed 0
HGVS NC_000014.8:g.58910729C>T
CLNSRC
CLNACC RCV000201703.1,