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rs760830696

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs760830696(-;-)
Make rs760830696(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123686974
GeneTCTN2
is asnp
is mentioned by
dbSNPrs760830696
dbSNP (classic)rs760830696
ClinGenrs760830696
ebirs760830696
HLIrs760830696
Exacrs760830696
Gnomadrs760830696
Varsomers760830696
LitVarrs760830696
Maprs760830696
PheGenIrs760830696
Biobankrs760830696
1000 genomesrs760830696
hgdprs760830696
ensemblrs760830696
geneviewrs760830696
scholarrs760830696
googlers760830696
pharmgkbrs760830696
gwascentralrs760830696
openSNPrs760830696
23andMers760830696
SNPshotrs760830696
SNPdbers760830696
MSV3drs760830696
GWAS Ctlgrs760830696
Max Magnitude0
ClinVar
Risk rs760830696(-;-)
Alt rs760830696(-;-)
Reference Rs760830696(C;C)
Significance Pathogenic
Disease Meckel syndrome type 8 not provided
Variation info
Gene TCTN2
CLNDBN Meckel syndrome type 8 not provided
Reversed 0
HGVS NC_000012.11:g.124171521delC
CLNSRC
CLNACC RCV000194845.1, RCV000338833.1,