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

rs587776921

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587776921(C;T)
Make rs587776921(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position232486064
GeneECEL1
is asnp
is mentioned by
dbSNPrs587776921
ebirs587776921
HLIrs587776921
Exacrs587776921
Varsomers587776921
Maprs587776921
PheGenIrs587776921
hapmaprs587776921
1000 genomesrs587776921
hgdprs587776921
ensemblrs587776921
gopubmedrs587776921
geneviewrs587776921
scholarrs587776921
googlers587776921
pharmgkbrs587776921
gwascentralrs587776921
openSNPrs587776921
23andMers587776921
23andMe allrs587776921
SNP Nexus

SNPshotrs587776921
SNPdbers587776921
MSV3drs587776921
GWAS Ctlgrs587776921
Max Magnitude0
ClinVar
Risk rs587776921(T;T)
Alt rs587776921(T;T)
Reference rs587776921(C;C)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene ECEL1
CLNDBN Arthrogryposis, distal, type 5d
Reversed 0
HGVS NC_000002.11:g.233350774C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032689.3, RCV000224367.1,