rs104894312

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs104894312(C;T)

Make rs104894312(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

1841468

Gene	LOC107984299, TNNI2

is a	snp
is	mentioned by
dbSNP	rs104894312
dbSNP (classic)	rs104894312
ClinGen	rs104894312
ebi	rs104894312
HLI	rs104894312
Exac	rs104894312
Gnomad	rs104894312
Varsome	rs104894312
LitVar	rs104894312
Map	rs104894312
PheGenI	rs104894312
Biobank	rs104894312
1000 genomes	rs104894312
hgdp	rs104894312
ensembl	rs104894312
geneview	rs104894312
scholar	rs104894312
google	rs104894312
pharmgkb	rs104894312
gwascentral	rs104894312
openSNP	rs104894312
23andMe	rs104894312
SNPshot	rs104894312
SNPdbe	rs104894312
MSV3d	rs104894312
GWAS Ctlg	rs104894312

Max Magnitude

0

OMIM	191043
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894312(T;T)
Alt	rs104894312(T;T)
Reference	Rs104894312(C;C)
Significance	Pathogenic
Disease	Distal arthrogryposis type 2B not provided Calcaneovalgus deformity Congenital finger flexion contractures Distal arthrogryposis Ulnar deviation of the wrist
Variation	info
Gene	TNNI2
CLNDBN	Distal arthrogryposis type 2B not provided Calcaneovalgus deformity Congenital finger flexion contractures Distal arthrogryposis Ulnar deviation of the wrist
Reversed	0
HGVS	NC_000011.9:g.1862698C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013249.17, RCV000128665.1, RCV000415208.1,

[PMID 12592607] 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.