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rs878853118

From SNPedia

Orientationminus
Geno Mag Summary
(ATGGG;ATGGG) 0 common in clinvar
Make rs878853118(ATGGG;GCT)
Make rs878853118(GCT;GCT)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position232485253
GeneECEL1
is asnp
is mentioned by
dbSNPrs878853118
ebirs878853118
HLIrs878853118
Exacrs878853118
Varsomers878853118
Maprs878853118
PheGenIrs878853118
hapmaprs878853118
1000 genomesrs878853118
hgdprs878853118
ensemblrs878853118
gopubmedrs878853118
geneviewrs878853118
scholarrs878853118
googlers878853118
pharmgkbrs878853118
gwascentralrs878853118
openSNPrs878853118
23andMers878853118
23andMe allrs878853118
SNP Nexus

SNPshotrs878853118
SNPdbers878853118
MSV3drs878853118
GWAS Ctlgrs878853118
Max Magnitude0
ClinVar
Risk rs878853118(GCT;GCT)
Alt rs878853118(GCT;GCT)
Reference rs878853118(ATGGG;ATGGG)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene ECEL1
CLNDBN Arthrogryposis, distal, type 5d
Reversed 1
HGVS NC_000002.11:g.233349963_233349967delCCCATinsAGC
CLNSRC
CLNACC RCV000224404.1,