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rs1060500193

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500193(A;A)
Make rs1060500193(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position189001425
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs1060500193
dbSNP (old)rs1060500193
ClinGenrs1060500193
ebirs1060500193
HLIrs1060500193
Exacrs1060500193
Gnomadrs1060500193
Varsomers1060500193
Maprs1060500193
PheGenIrs1060500193
Biobankrs1060500193
1000 genomesrs1060500193
hgdprs1060500193
ensemblrs1060500193
gopubmedrs1060500193
geneviewrs1060500193
scholarrs1060500193
googlers1060500193
pharmgkbrs1060500193
gwascentralrs1060500193
openSNPrs1060500193
23andMers1060500193
23andMe allrs1060500193
SNPshotrs1060500193
SNPdbers1060500193
MSV3drs1060500193
GWAS Ctlgrs1060500193
Max Magnitude0
ClinVar
Risk rs1060500193(A;A)
Alt rs1060500193(A;A)
Reference Rs1060500193(G;G)
Significance Probable-Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189866151G>A
CLNSRC
CLNACC RCV000474051.1,