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rs104894311

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894311(A;A)
Make rs104894311(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position1841523
GeneTNNI2
is asnp
is mentioned by
dbSNPrs104894311
ebirs104894311
HLIrs104894311
Exacrs104894311
Varsomers104894311
Maprs104894311
PheGenIrs104894311
hapmaprs104894311
1000 genomesrs104894311
hgdprs104894311
ensemblrs104894311
gopubmedrs104894311
geneviewrs104894311
scholarrs104894311
googlers104894311
pharmgkbrs104894311
gwascentralrs104894311
openSNPrs104894311
23andMers104894311
23andMe allrs104894311
SNP Nexus

SNPshotrs104894311
SNPdbers104894311
MSV3drs104894311
GWAS Ctlgrs104894311
Max Magnitude0
OMIM191043
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894311(A;A)
Alt rs104894311(A;A)
Reference Rs104894311(G;G)
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.1862753G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013248.23, RCV000128667.2,


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