rs104894127

Orientation

minus

Stabilized

minus

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

Make rs104894127(C;G)

Make rs104894127(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

35685750

Gene

TPM2

is a	snp
is	mentioned by
dbSNP	rs104894127
dbSNP (classic)	rs104894127
ClinGen	rs104894127
ebi	rs104894127
HLI	rs104894127
Exac	rs104894127
Gnomad	rs104894127
Varsome	rs104894127
LitVar	rs104894127
Map	rs104894127
PheGenI	rs104894127
Biobank	rs104894127
1000 genomes	rs104894127
hgdp	rs104894127
ensembl	rs104894127
geneview	rs104894127
scholar	rs104894127
google	rs104894127
pharmgkb	rs104894127
gwascentral	rs104894127
openSNP	rs104894127
23andMe	rs104894127
SNPshot	rs104894127
SNPdbe	rs104894127
MSV3d	rs104894127
GWAS Ctlg	rs104894127

Max Magnitude

0

OMIM	190990
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894127(G;G)
Alt	rs104894127(G;G)
Reference	Rs104894127(C;C)
Significance	Pathogenic
Disease	Arthrogryposis multiplex congenita distal type 1 not provided
Variation	info
Gene	TPM2
CLNDBN	Arthrogryposis multiplex congenita distal type 1 not provided
Reversed	1
HGVS	NC_000009.11:g.35685747G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013276.26, RCV000128679.1,

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