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rs587777130

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777130(C;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position232482887
GeneECEL1
is asnp
is mentioned by
dbSNPrs587777130
ebirs587777130
HLIrs587777130
Exacrs587777130
Varsomers587777130
Maprs587777130
PheGenIrs587777130
hapmaprs587777130
1000 genomesrs587777130
hgdprs587777130
ensemblrs587777130
gopubmedrs587777130
geneviewrs587777130
scholarrs587777130
googlers587777130
pharmgkbrs587777130
gwascentralrs587777130
openSNPrs587777130
23andMers587777130
23andMe allrs587777130
SNP Nexus

SNPshotrs587777130
SNPdbers587777130
MSV3drs587777130
GWAS Ctlgrs587777130
Max Magnitude0
ClinVar
Risk rs587777130(G;G)
Alt rs587777130(G;G)
Reference rs587777130(C;C)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene ECEL1
CLNDBN Arthrogryposis, distal, type 5d
Reversed 1
HGVS NC_000002.11:g.233347597G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000087051.4,