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rs886044138

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Chromosome12
Position123690605
GeneTCTN2
is asnp
is mentioned by
dbSNPrs886044138
dbSNP (classic)rs886044138
ClinGenrs886044138
ebirs886044138
HLIrs886044138
Exacrs886044138
Gnomadrs886044138
Varsomers886044138
LitVarrs886044138
Maprs886044138
PheGenIrs886044138
Biobankrs886044138
1000 genomesrs886044138
hgdprs886044138
ensemblrs886044138
geneviewrs886044138
scholarrs886044138
googlers886044138
pharmgkbrs886044138
gwascentralrs886044138
openSNPrs886044138
23andMers886044138
SNPshotrs886044138
SNPdbers886044138
MSV3drs886044138
GWAS Ctlgrs886044138
Max Magnitude0
ClinVar
Risk rs886044138(A;A)
Alt rs886044138(A;A)
Reference Rs886044138(-;-)
Significance Probable-Pathogenic
Disease Meckel syndrome type 8
Variation info
Gene TCTN2
CLNDBN Meckel syndrome type 8
Reversed 0
HGVS NC_000012.11:g.124175152dupA
CLNSRC
CLNACC RCV000406246.1,