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rs587779479

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779479(C;T)
Make rs587779479(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006236
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779479
ebirs587779479
HLIrs587779479
Exacrs587779479
Varsomers587779479
Maprs587779479
PheGenIrs587779479
hapmaprs587779479
1000 genomesrs587779479
hgdprs587779479
ensemblrs587779479
gopubmedrs587779479
geneviewrs587779479
scholarrs587779479
googlers587779479
pharmgkbrs587779479
gwascentralrs587779479
openSNPrs587779479
23andMers587779479
23andMe allrs587779479
SNP Nexus

SNPshotrs587779479
SNPdbers587779479
MSV3drs587779479
GWAS Ctlgrs587779479
Max Magnitude0
ClinVar
Risk rs587779479(T;T)
Alt rs587779479(T;T)
Reference rs587779479(C;C)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189870962C>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087411.1,