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rs199474800

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAG;GAG) 0 common in clinvar
Make rs199474800(-;-)
Make rs199474800(-;GAG)
ReferenceGRCh38 38.1/141
Chromosome11
Position1841501
GeneTNNI2
is asnp
is mentioned by
dbSNPrs199474800
ebirs199474800
HLIrs199474800
Exacrs199474800
Varsomers199474800
Maprs199474800
PheGenIrs199474800
hapmaprs199474800
1000 genomesrs199474800
hgdprs199474800
ensemblrs199474800
gopubmedrs199474800
geneviewrs199474800
scholarrs199474800
googlers199474800
pharmgkbrs199474800
gwascentralrs199474800
openSNPrs199474800
23andMers199474800
23andMe allrs199474800
SNP Nexus

SNPshotrs199474800
SNPdbers199474800
MSV3drs199474800
GWAS Ctlgrs199474800
Max Magnitude0
ClinVar
Risk rs199474800(;)
Alt rs199474800(;)
Reference rs199474800(GAG;GAG)
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.1862731_1862733delGAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000013252.25, RCV000128666.1,


[PMID 16497570] A TNNI2 mutation in a family with distal arthrogryposis type 2B.