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rs199474801

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
(GAA;GAA) 0 common in clinvar
Make rs199474801(-;-)
Make rs199474801(-;AGA)
ReferenceGRCh38 38.1/141
Chromosome11
Position1841529
GeneTNNI2
is asnp
is mentioned by
dbSNPrs199474801
ebirs199474801
HLIrs199474801
Exacrs199474801
Varsomers199474801
Maprs199474801
PheGenIrs199474801
hapmaprs199474801
1000 genomesrs199474801
hgdprs199474801
ensemblrs199474801
gopubmedrs199474801
geneviewrs199474801
scholarrs199474801
googlers199474801
pharmgkbrs199474801
gwascentralrs199474801
openSNPrs199474801
23andMers199474801
23andMe allrs199474801
SNP Nexus

SNPshotrs199474801
SNPdbers199474801
MSV3drs199474801
GWAS Ctlgrs199474801
Max Magnitude0
ClinVar
Risk rs199474801(;)
Alt rs199474801(;)
Reference rs199474801(GAA;GAA)
Significance Untested
Disease not provided
Variation info
Gene TNNI2
CLNDBN not provided
Reversed 0
HGVS NC_000011.9:g.1862759_1862761delAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000128668.1,


[PMID 16924011] A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis.