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rs587777131

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777131(A;A)
Make rs587777131(A;C)
ReferenceGRCh38 38.1/142
Chromosome2
Position232482850
GeneECEL1
is asnp
is mentioned by
dbSNPrs587777131
ebirs587777131
HLIrs587777131
Exacrs587777131
Varsomers587777131
Maprs587777131
PheGenIrs587777131
hapmaprs587777131
1000 genomesrs587777131
hgdprs587777131
ensemblrs587777131
gopubmedrs587777131
geneviewrs587777131
scholarrs587777131
googlers587777131
pharmgkbrs587777131
gwascentralrs587777131
openSNPrs587777131
23andMers587777131
23andMe allrs587777131
SNP Nexus

SNPshotrs587777131
SNPdbers587777131
MSV3drs587777131
GWAS Ctlgrs587777131
Max Magnitude0
ClinVar
Risk rs587777131(A,C;A,C)
Alt rs587777131(A,C;A,C)
Reference rs587777131(G;G)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene ECEL1
CLNDBN Arthrogryposis, distal, type 5d
Reversed 1
HGVS NC_000002.11:g.233347560C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000087052.4,