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rs113871730

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113871730(A;A)
Make rs113871730(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position188991697
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs113871730
ebirs113871730
HLIrs113871730
Exacrs113871730
Varsomers113871730
Maprs113871730
PheGenIrs113871730
hapmaprs113871730
1000 genomesrs113871730
hgdprs113871730
ensemblrs113871730
gopubmedrs113871730
geneviewrs113871730
scholarrs113871730
googlers113871730
pharmgkbrs113871730
gwascentralrs113871730
openSNPrs113871730
23andMers113871730
23andMe allrs113871730
SNP Nexus

SNPshotrs113871730
SNPdbers113871730
MSV3drs113871730
GWAS Ctlgrs113871730
Max Magnitude0
ClinVar
Risk rs113871730(A;A)
Alt rs113871730(A;A)
Reference rs113871730(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.189856423G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087602.1,