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rs1057516038

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516038(C;T)
Make rs1057516038(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position58444158
GeneKIAA0586
is asnp
is mentioned by
dbSNPrs1057516038
dbSNP (classic)rs1057516038
ClinGenrs1057516038
ebirs1057516038
HLIrs1057516038
Exacrs1057516038
Gnomadrs1057516038
Varsomers1057516038
LitVarrs1057516038
Maprs1057516038
PheGenIrs1057516038
Biobankrs1057516038
1000 genomesrs1057516038
hgdprs1057516038
ensemblrs1057516038
geneviewrs1057516038
scholarrs1057516038
googlers1057516038
pharmgkbrs1057516038
gwascentralrs1057516038
openSNPrs1057516038
23andMers1057516038
23andMe allrs1057516038
SNPshotrs1057516038
SNPdbers1057516038
MSV3drs1057516038
GWAS Ctlgrs1057516038
Max Magnitude0
ClinVar
Risk rs1057516038(T;T)
Alt rs1057516038(T;T)
Reference Rs1057516038(C;C)
Significance Pathogenic
Disease Joubert syndrome 23
Variation info
Gene KIAA0586
CLNDBN Joubert syndrome 23
Reversed 0
HGVS NC_000014.8:g.58910876C>T
CLNSRC
CLNACC RCV000408631.1,