Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894127

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894127(C;G)
Make rs104894127(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position35685750
GeneTPM2
is asnp
is mentioned by
dbSNPrs104894127
ebirs104894127
HLIrs104894127
Exacrs104894127
Varsomers104894127
Maprs104894127
PheGenIrs104894127
hapmaprs104894127
1000 genomesrs104894127
hgdprs104894127
ensemblrs104894127
gopubmedrs104894127
geneviewrs104894127
scholarrs104894127
googlers104894127
pharmgkbrs104894127
gwascentralrs104894127
openSNPrs104894127
23andMers104894127
23andMe allrs104894127
SNP Nexus

SNPshotrs104894127
SNPdbers104894127
MSV3drs104894127
GWAS Ctlgrs104894127
Max Magnitude0
OMIM190990
Desc
Variant0001
Relatedalso
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
CLNACC RCV000013276.24, RCV000128679.1,


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