rs104894311

Orientation

plus

Stabilized

plus

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

Make rs104894311(A;A)

Make rs104894311(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

1841523

Gene	LOC107984299, TNNI2

is a	snp
is	mentioned by
dbSNP	rs104894311
dbSNP (classic)	rs104894311
ClinGen	rs104894311
ebi	rs104894311
HLI	rs104894311
Exac	rs104894311
Gnomad	rs104894311
Varsome	rs104894311
LitVar	rs104894311
Map	rs104894311
PheGenI	rs104894311
Biobank	rs104894311
1000 genomes	rs104894311
hgdp	rs104894311
ensembl	rs104894311
geneview	rs104894311
scholar	rs104894311
google	rs104894311
pharmgkb	rs104894311
gwascentral	rs104894311
openSNP	rs104894311
23andMe	rs104894311
SNPshot	rs104894311
SNPdbe	rs104894311
MSV3d	rs104894311
GWAS Ctlg	rs104894311

Max Magnitude

0

OMIM	191043
Desc
Variant	0001
Related	also

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 12592607] Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.