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rs1060502248

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060502248(A;A)
Make rs1060502248(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position134780147
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs1060502248
dbSNP (classic)rs1060502248
ClinGenrs1060502248
ebirs1060502248
HLIrs1060502248
Exacrs1060502248
Gnomadrs1060502248
Varsomers1060502248
LitVarrs1060502248
Maprs1060502248
PheGenIrs1060502248
Biobankrs1060502248
1000 genomesrs1060502248
hgdprs1060502248
ensemblrs1060502248
geneviewrs1060502248
scholarrs1060502248
googlers1060502248
pharmgkbrs1060502248
gwascentralrs1060502248
openSNPrs1060502248
23andMers1060502248
23andMe allrs1060502248
SNPshotrs1060502248
SNPdbers1060502248
MSV3drs1060502248
GWAS Ctlgrs1060502248
Max Magnitude0
ClinVar
Risk rs1060502248(A;A)
Alt rs1060502248(A;A)
Reference Rs1060502248(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000009.11:g.137671993G>A
CLNSRC
CLNACC RCV000469802.1,