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rs587776919

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776919(G;T)
Make rs587776919(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position232484156
GeneECEL1
is asnp
is mentioned by
dbSNPrs587776919
ebirs587776919
HLIrs587776919
Exacrs587776919
Varsomers587776919
Maprs587776919
PheGenIrs587776919
hapmaprs587776919
1000 genomesrs587776919
hgdprs587776919
ensemblrs587776919
gopubmedrs587776919
geneviewrs587776919
scholarrs587776919
googlers587776919
pharmgkbrs587776919
gwascentralrs587776919
openSNPrs587776919
23andMers587776919
23andMe allrs587776919
SNP Nexus

SNPshotrs587776919
SNPdbers587776919
MSV3drs587776919
GWAS Ctlgrs587776919
Max Magnitude0
ClinVar
Risk rs587776919(A,T;A,T)
Alt rs587776919(A,T;A,T)
Reference rs587776919(G;G)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene ECEL1
CLNDBN Arthrogryposis, distal, type 5d
Reversed 0
HGVS NC_000002.11:g.233348866G>A; NC_000002.11:g.233348866G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032688.6, RCV000224367.1, RCV000032686.4, RCV000224716.1,