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rs587779645

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779645(G;T)
Make rs587779645(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189003762
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779645
ebirs587779645
HLIrs587779645
Exacrs587779645
Varsomers587779645
Maprs587779645
PheGenIrs587779645
hapmaprs587779645
1000 genomesrs587779645
hgdprs587779645
ensemblrs587779645
gopubmedrs587779645
geneviewrs587779645
scholarrs587779645
googlers587779645
pharmgkbrs587779645
gwascentralrs587779645
openSNPrs587779645
23andMers587779645
23andMe allrs587779645
SNP Nexus

SNPshotrs587779645
SNPdbers587779645
MSV3drs587779645
GWAS Ctlgrs587779645
Max Magnitude0
ClinVar
Risk rs587779645(T;T)
Alt rs587779645(T;T)
Reference rs587779645(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.189868488G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087617.1,