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rs587779600

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779600(C;C)
Make rs587779600(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188997390
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779600
ebirs587779600
HLIrs587779600
Exacrs587779600
Varsomers587779600
Maprs587779600
PheGenIrs587779600
hapmaprs587779600
1000 genomesrs587779600
hgdprs587779600
ensemblrs587779600
gopubmedrs587779600
geneviewrs587779600
scholarrs587779600
googlers587779600
pharmgkbrs587779600
gwascentralrs587779600
openSNPrs587779600
23andMers587779600
23andMe allrs587779600
SNP Nexus

SNPshotrs587779600
SNPdbers587779600
MSV3drs587779600
GWAS Ctlgrs587779600
Max Magnitude0
ClinVar
Risk rs587779600(C;C)
Alt rs587779600(C;C)
Reference rs587779600(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189862116G>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087552.1,