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rs201827132

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201827132(G;T)
Make rs201827132(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123686884
GeneTCTN2
is asnp
is mentioned by
dbSNPrs201827132
ebirs201827132
HLIrs201827132
Exacrs201827132
Varsomers201827132
Maprs201827132
PheGenIrs201827132
hapmaprs201827132
1000 genomesrs201827132
hgdprs201827132
ensemblrs201827132
gopubmedrs201827132
geneviewrs201827132
scholarrs201827132
googlers201827132
pharmgkbrs201827132
gwascentralrs201827132
openSNPrs201827132
23andMers201827132
23andMe allrs201827132
SNP Nexus

SNPshotrs201827132
SNPdbers201827132
MSV3drs201827132
GWAS Ctlgrs201827132
Max Magnitude0
ClinVar
Risk rs201827132(A,T;A,T)
Alt rs201827132(A,T;A,T)
Reference rs201827132(G;G)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene TCTN2
CLNDBN Joubert syndrome
Reversed 0
HGVS NC_000012.11:g.124171431G>T
CLNSRC
CLNACC RCV000201719.1,