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rs797046040

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797046040(-;T)
Make rs797046040(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123671558
GeneTCTN2
is asnp
is mentioned by
dbSNPrs797046040
ClinGenrs797046040
ebirs797046040
HLIrs797046040
Exacrs797046040
Varsomers797046040
Maprs797046040
PheGenIrs797046040
hapmaprs797046040
1000 genomesrs797046040
hgdprs797046040
ensemblrs797046040
gopubmedrs797046040
geneviewrs797046040
scholarrs797046040
googlers797046040
pharmgkbrs797046040
gwascentralrs797046040
openSNPrs797046040
23andMers797046040
23andMe allrs797046040
SNP Nexus

SNPshotrs797046040
SNPdbers797046040
MSV3drs797046040
GWAS Ctlgrs797046040
Max Magnitude0
ClinVar
Risk rs797046040(T;T)
Alt rs797046040(T;T)
Reference Rs797046040(-;-)
Significance Pathogenic
Disease Meckel syndrome type 8
Variation info
Gene TCTN2
CLNDBN Meckel syndrome type 8
Reversed 0
HGVS NC_000012.11:g.124156105dupT
CLNSRC
CLNACC RCV000192770.1,