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rs1060500187

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500187(A;A)
Make rs1060500187(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position189010187
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs1060500187
dbSNP (old)rs1060500187
ClinGenrs1060500187
ebirs1060500187
HLIrs1060500187
Exacrs1060500187
Gnomadrs1060500187
Varsomers1060500187
LitVarrs1060500187
Maprs1060500187
PheGenIrs1060500187
Biobankrs1060500187
1000 genomesrs1060500187
hgdprs1060500187
ensemblrs1060500187
gopubmedrs1060500187
geneviewrs1060500187
scholarrs1060500187
googlers1060500187
pharmgkbrs1060500187
gwascentralrs1060500187
openSNPrs1060500187
23andMers1060500187
23andMe allrs1060500187
SNPshotrs1060500187
SNPdbers1060500187
MSV3drs1060500187
GWAS Ctlgrs1060500187
Max Magnitude0
ClinVar
Risk rs1060500187(A;A)
Alt rs1060500187(A;A)
Reference Rs1060500187(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.189874913G>A
CLNSRC
CLNACC RCV000474369.1,