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rs587776920

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587776920(A;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position232484469
GeneECEL1
is asnp
is mentioned by
dbSNPrs587776920
ebirs587776920
HLIrs587776920
Exacrs587776920
Varsomers587776920
Maprs587776920
PheGenIrs587776920
hapmaprs587776920
1000 genomesrs587776920
hgdprs587776920
ensemblrs587776920
gopubmedrs587776920
geneviewrs587776920
scholarrs587776920
googlers587776920
pharmgkbrs587776920
gwascentralrs587776920
openSNPrs587776920
23andMers587776920
23andMe allrs587776920
SNP Nexus

SNPshotrs587776920
SNPdbers587776920
MSV3drs587776920
GWAS Ctlgrs587776920
Max Magnitude0
ClinVar
Risk rs587776920(T;T)
Alt rs587776920(T;T)
Reference rs587776920(A;A)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene ECEL1
CLNDBN Arthrogryposis, distal, type 5d
Reversed 1
HGVS NC_000002.11:g.233349179T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032687.4, RCV000224716.1,