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rs587776918

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACCTGGACGCCAG;ACCTGGACGCCAG) 0 common in clinvar
(TGGCGTCCAGGT;TGGCGTCCAGGT) 0 common in clinvar
Make rs587776918(-;-)
Make rs587776918(-;TGGCGTCCAGGT)
ReferenceGRCh38 38.1/142
Chromosome2
Position232486299
GeneECEL1
is asnp
is mentioned by
dbSNPrs587776918
ebirs587776918
HLIrs587776918
Exacrs587776918
Varsomers587776918
Maprs587776918
PheGenIrs587776918
hapmaprs587776918
1000 genomesrs587776918
hgdprs587776918
ensemblrs587776918
gopubmedrs587776918
geneviewrs587776918
scholarrs587776918
googlers587776918
pharmgkbrs587776918
gwascentralrs587776918
openSNPrs587776918
23andMers587776918
23andMe allrs587776918
SNP Nexus

SNPshotrs587776918
SNPdbers587776918
MSV3drs587776918
GWAS Ctlgrs587776918
Max Magnitude0
ClinVar
Risk rs587776918(TGGCGTCCAGGTG,G;TGGCGTCCAGGTG,G)
Alt rs587776918(TGGCGTCCAGGTG,G;TGGCGTCCAGGTG,G)
Reference rs587776918(ACCTGGACGCCAG;ACCTGGACGCCAG)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene ECEL1
CLNDBN Arthrogryposis, distal, type 5d
Reversed 1
HGVS NC_000002.11:g.233351009_233351020delTGGCGTCCAGGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000032685.3, RCV000224209.1,