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rs1057517293

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517293(-;C)
Make rs1057517293(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position5798664
GeneEVC
is asnp
is mentioned by
dbSNPrs1057517293
dbSNP (old)rs1057517293
ClinGenrs1057517293
ebirs1057517293
HLIrs1057517293
Exacrs1057517293
Gnomadrs1057517293
Varsomers1057517293
LitVarrs1057517293
Maprs1057517293
PheGenIrs1057517293
Biobankrs1057517293
1000 genomesrs1057517293
hgdprs1057517293
ensemblrs1057517293
gopubmedrs1057517293
geneviewrs1057517293
scholarrs1057517293
googlers1057517293
pharmgkbrs1057517293
gwascentralrs1057517293
openSNPrs1057517293
23andMers1057517293
23andMe allrs1057517293
SNPshotrs1057517293
SNPdbers1057517293
MSV3drs1057517293
GWAS Ctlgrs1057517293
Max Magnitude0
ClinVar
Risk rs1057517293(C;C)
Alt rs1057517293(C;C)
Reference Rs1057517293(-;-)
Significance Probable-Pathogenic
Disease Chondroectodermal dysplasia
Variation info
Gene EVC
CLNDBN Chondroectodermal dysplasia
Reversed 0
HGVS NC_000004.11:g.5800391dupC
CLNSRC
CLNACC RCV000411885.1,