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rs587779695

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779695(A;A)
Make rs587779695(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999479
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779695
ebirs587779695
HLIrs587779695
Exacrs587779695
Varsomers587779695
Maprs587779695
PheGenIrs587779695
hapmaprs587779695
1000 genomesrs587779695
hgdprs587779695
ensemblrs587779695
gopubmedrs587779695
geneviewrs587779695
scholarrs587779695
googlers587779695
pharmgkbrs587779695
gwascentralrs587779695
openSNPrs587779695
23andMers587779695
23andMe allrs587779695
SNP Nexus

SNPshotrs587779695
SNPdbers587779695
MSV3drs587779695
GWAS Ctlgrs587779695
Max Magnitude0
ClinVar
Risk rs587779695(A;A)
Alt rs587779695(A;A)
Reference rs587779695(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.189864205G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087693.1,