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rs104894312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894312(C;T)
Make rs104894312(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position1841468
GeneTNNI2
is asnp
is mentioned by
dbSNPrs104894312
ebirs104894312
HLIrs104894312
Exacrs104894312
Varsomers104894312
Maprs104894312
PheGenIrs104894312
hapmaprs104894312
1000 genomesrs104894312
hgdprs104894312
ensemblrs104894312
gopubmedrs104894312
geneviewrs104894312
scholarrs104894312
googlers104894312
pharmgkbrs104894312
gwascentralrs104894312
openSNPrs104894312
23andMers104894312
23andMe allrs104894312
SNP Nexus

SNPshotrs104894312
SNPdbers104894312
MSV3drs104894312
GWAS Ctlgrs104894312
Max Magnitude0
OMIM191043
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894312(T;T)
Alt rs104894312(T;T)
Reference rs104894312(C;C)
Significance Pathogenic
Disease Distal arthrogryposis type 2B not provided
Variation info
Gene TNNI2
CLNDBN Distal arthrogryposis type 2B not provided
Reversed 0
HGVS NC_000011.9:g.1862698C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013249.17, RCV000128665.1,


[PMID 12592607OA-icon.png] Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.


[PMID 17101001] Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B.