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rs869312034

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5 Ehlers-Danlos syndrome, type 4; see discussion
(G;G) 0 common/normal


Make rs869312034(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position189006260
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs869312034
ebirs869312034
HLIrs869312034
Exacrs869312034
Varsomers869312034
Maprs869312034
PheGenIrs869312034
hapmaprs869312034
1000 genomesrs869312034
hgdprs869312034
ensemblrs869312034
gopubmedrs869312034
geneviewrs869312034
scholarrs869312034
googlers869312034
pharmgkbrs869312034
gwascentralrs869312034
openSNPrs869312034
23andMers869312034
23andMe allrs869312034
SNP Nexus

SNPshotrs869312034
SNPdbers869312034
MSV3drs869312034
GWAS Ctlgrs869312034
Max Magnitude5
aka c.3093+1G>A

reported in ClinVar as pathogenic for Ehlers-Danlos syndrome, type 4

ClinVar
Risk rs869312034(A;A)
Alt rs869312034(A;A)
Reference rs869312034(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.189870986G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018744.28,