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rs587776917

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776917(-;-)
Make rs587776917(-;T)
Make rs587776917(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position232485938
GeneECEL1
is asnp
is mentioned by
dbSNPrs587776917
ebirs587776917
HLIrs587776917
Exacrs587776917
Varsomers587776917
Maprs587776917
PheGenIrs587776917
hapmaprs587776917
1000 genomesrs587776917
hgdprs587776917
ensemblrs587776917
gopubmedrs587776917
geneviewrs587776917
scholarrs587776917
googlers587776917
pharmgkbrs587776917
gwascentralrs587776917
openSNPrs587776917
23andMers587776917
23andMe allrs587776917
SNP Nexus

SNPshotrs587776917
SNPdbers587776917
MSV3drs587776917
GWAS Ctlgrs587776917
Max Magnitude0
ClinVar
Risk rs587776917(T;T)
Alt rs587776917(T;T)
Reference rs587776917(;)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene ECEL1
CLNDBN Arthrogryposis, distal, type 5d
Reversed 0
HGVS NC_000002.11:g.233350648dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000032684.5, RCV000224209.1,