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rs878853117

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs878853117(A;G)
Make rs878853117(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position232485078
GeneECEL1
is asnp
is mentioned by
dbSNPrs878853117
ebirs878853117
HLIrs878853117
Exacrs878853117
Varsomers878853117
Maprs878853117
PheGenIrs878853117
hapmaprs878853117
1000 genomesrs878853117
hgdprs878853117
ensemblrs878853117
gopubmedrs878853117
geneviewrs878853117
scholarrs878853117
googlers878853117
pharmgkbrs878853117
gwascentralrs878853117
openSNPrs878853117
23andMers878853117
23andMe allrs878853117
SNP Nexus

SNPshotrs878853117
SNPdbers878853117
MSV3drs878853117
GWAS Ctlgrs878853117
Max Magnitude0
ClinVar
Risk rs878853117(G;G)
Alt rs878853117(G;G)
Reference rs878853117(A;A)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene ECEL1
CLNDBN Arthrogryposis, distal, type 5d
Reversed 1
HGVS NC_000002.11:g.233349788T>C
CLNSRC
CLNACC RCV000224404.1,