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rs187433682

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs187433682(A;A)
Make rs187433682(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123694859
GeneTCTN2
is asnp
is mentioned by
dbSNPrs187433682
ebirs187433682
HLIrs187433682
Exacrs187433682
Varsomers187433682
Maprs187433682
PheGenIrs187433682
hapmaprs187433682
1000 genomesrs187433682
hgdprs187433682
ensemblrs187433682
gopubmedrs187433682
geneviewrs187433682
scholarrs187433682
googlers187433682
pharmgkbrs187433682
gwascentralrs187433682
openSNPrs187433682
23andMers187433682
23andMe allrs187433682
SNP Nexus

SNPshotrs187433682
SNPdbers187433682
MSV3drs187433682
GWAS Ctlgrs187433682
Max Magnitude0
ClinVar
Risk rs187433682(A;A)
Alt rs187433682(A;A)
Reference rs187433682(G;G)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene TCTN2
CLNDBN Joubert syndrome
Reversed 0
HGVS NC_000012.11:g.124179406G>A
CLNSRC
CLNACC RCV000201680.1,