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rs797046046

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797046046(G;T)
Make rs797046046(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position1841527
GeneLOC107984299, TNNI2
is asnp
is mentioned by
dbSNPrs797046046
dbSNP (classic)rs797046046
ClinGenrs797046046
ebirs797046046
HLIrs797046046
Exacrs797046046
Gnomadrs797046046
Varsomers797046046
LitVarrs797046046
Maprs797046046
PheGenIrs797046046
Biobankrs797046046
1000 genomesrs797046046
hgdprs797046046
ensemblrs797046046
geneviewrs797046046
scholarrs797046046
googlers797046046
pharmgkbrs797046046
gwascentralrs797046046
openSNPrs797046046
23andMers797046046
SNPshotrs797046046
SNPdbers797046046
MSV3drs797046046
GWAS Ctlgrs797046046
Max Magnitude0
ClinVar
Risk rs797046046(T;T)
Alt rs797046046(T;T)
Reference Rs797046046(G;G)
Significance Probable-Pathogenic
Disease Distal arthrogryposis type 2B
Variation info
Gene TNNI2
CLNDBN Distal arthrogryposis type 2B
Reversed 0
HGVS NC_000011.9:g.1862757G>T
CLNSRC
CLNACC RCV000193314.1,