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rs587779585

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779585(C;T)
Make rs587779585(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189011667
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779585
ebirs587779585
HLIrs587779585
Exacrs587779585
Varsomers587779585
Maprs587779585
PheGenIrs587779585
hapmaprs587779585
1000 genomesrs587779585
hgdprs587779585
ensemblrs587779585
gopubmedrs587779585
geneviewrs587779585
scholarrs587779585
googlers587779585
pharmgkbrs587779585
gwascentralrs587779585
openSNPrs587779585
23andMers587779585
23andMe allrs587779585
SNP Nexus

SNPshotrs587779585
SNPdbers587779585
MSV3drs587779585
GWAS Ctlgrs587779585
Max Magnitude0
ClinVar
Risk rs587779585(T;T)
Alt rs587779585(T;T)
Reference rs587779585(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.189876393C>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087536.1,