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rs587777129

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777129(A;G)
Make rs587777129(G;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position232480203
GeneECEL1
is asnp
is mentioned by
dbSNPrs587777129
ebirs587777129
HLIrs587777129
Exacrs587777129
Varsomers587777129
Maprs587777129
PheGenIrs587777129
hapmaprs587777129
1000 genomesrs587777129
hgdprs587777129
ensemblrs587777129
gopubmedrs587777129
geneviewrs587777129
scholarrs587777129
googlers587777129
pharmgkbrs587777129
gwascentralrs587777129
openSNPrs587777129
23andMers587777129
23andMe allrs587777129
SNP Nexus

SNPshotrs587777129
SNPdbers587777129
MSV3drs587777129
GWAS Ctlgrs587777129
Max Magnitude0
ClinVar
Risk Rs587777129(A;A) rs587777129(G;G)
Alt Rs587777129(A;A) rs587777129(G;G)
Reference Rs587777129(T;T)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene ECEL1
CLNDBN Arthrogryposis, distal, type 5d
Reversed 1
HGVS NC_000002.11:g.233344913A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000087050.4,