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rs1060502258

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060502258(G;T)
Make rs1060502258(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position134767009
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs1060502258
dbSNP (old)rs1060502258
ClinGenrs1060502258
ebirs1060502258
HLIrs1060502258
Exacrs1060502258
Gnomadrs1060502258
Varsomers1060502258
Maprs1060502258
PheGenIrs1060502258
Biobankrs1060502258
1000 genomesrs1060502258
hgdprs1060502258
ensemblrs1060502258
gopubmedrs1060502258
geneviewrs1060502258
scholarrs1060502258
googlers1060502258
pharmgkbrs1060502258
gwascentralrs1060502258
openSNPrs1060502258
23andMers1060502258
23andMe allrs1060502258
SNPshotrs1060502258
SNPdbers1060502258
MSV3drs1060502258
GWAS Ctlgrs1060502258
Max Magnitude0
ClinVar
Risk rs1060502258(T;T)
Alt rs1060502258(T;T)
Reference Rs1060502258(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.137658855G>T
CLNSRC
CLNACC RCV000463811.1,