rs199474800

Orientation

plus

Stabilized

plus

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

Make rs199474800(-;-)

Make rs199474800(-;GAG)

Reference

GRCh38 38.1/141

Chromosome

11

Position

1841501

Gene	LOC107984299, TNNI2

is a	snp
is	mentioned by
dbSNP	rs199474800
dbSNP (classic)	rs199474800
ClinGen	rs199474800
ebi	rs199474800
HLI	rs199474800
Exac	rs199474800
Gnomad	rs199474800
Varsome	rs199474800
LitVar	rs199474800
Map	rs199474800
PheGenI	rs199474800
Biobank	rs199474800
1000 genomes	rs199474800
hgdp	rs199474800
ensembl	rs199474800
geneview	rs199474800
scholar	rs199474800
google	rs199474800
pharmgkb	rs199474800
gwascentral	rs199474800
openSNP	rs199474800
23andMe	rs199474800
SNPshot	rs199474800
SNPdbe	rs199474800
MSV3d	rs199474800
GWAS Ctlg	rs199474800

Max Magnitude

0

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.