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rs587779601

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779601(A;A)
Make rs587779601(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988599
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779601
ebirs587779601
HLIrs587779601
Exacrs587779601
Varsomers587779601
Maprs587779601
PheGenIrs587779601
hapmaprs587779601
1000 genomesrs587779601
hgdprs587779601
ensemblrs587779601
gopubmedrs587779601
geneviewrs587779601
scholarrs587779601
googlers587779601
pharmgkbrs587779601
gwascentralrs587779601
openSNPrs587779601
23andMers587779601
23andMe allrs587779601
SNP Nexus

SNPshotrs587779601
SNPdbers587779601
MSV3drs587779601
GWAS Ctlgrs587779601
Max Magnitude0
ClinVar
Risk rs587779601(A;A)
Alt rs587779601(A;A)
Reference rs587779601(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.189853325G>A
CLNSRC
CLNACC RCV000087553.1,