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rs587776619

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587776619(-;-)
Make rs587776619(-;T)
ReferenceGRCh38 38.1/142
Chromosome4
Position5741748
GeneEVC
is asnp
is mentioned by
dbSNPrs587776619
dbSNP (classic)rs587776619
ClinGenrs587776619
ebirs587776619
HLIrs587776619
Exacrs587776619
Gnomadrs587776619
Varsomers587776619
LitVarrs587776619
Maprs587776619
PheGenIrs587776619
Biobankrs587776619
1000 genomesrs587776619
hgdprs587776619
ensemblrs587776619
geneviewrs587776619
scholarrs587776619
googlers587776619
pharmgkbrs587776619
gwascentralrs587776619
openSNPrs587776619
23andMers587776619
SNPshotrs587776619
SNPdbers587776619
MSV3drs587776619
GWAS Ctlgrs587776619
Max Magnitude0
ClinVar
Risk rs587776619(-;-)
Alt rs587776619(-;-)
Reference Rs587776619(T;T)
Significance Pathogenic
Disease Chondroectodermal dysplasia
Variation info
Gene EVC
CLNDBN Chondroectodermal dysplasia
Reversed 0
HGVS NC_000004.11:g.5743475delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000005669.5,