Have questions? Visit https://www.reddit.com/r/SNPedia

rs1060502255

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060502255(-;-)
Make rs1060502255(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position134817804
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs1060502255
dbSNP (classic)rs1060502255
ClinGenrs1060502255
ebirs1060502255
HLIrs1060502255
Exacrs1060502255
Gnomadrs1060502255
Varsomers1060502255
LitVarrs1060502255
Maprs1060502255
PheGenIrs1060502255
Biobankrs1060502255
1000 genomesrs1060502255
hgdprs1060502255
ensemblrs1060502255
geneviewrs1060502255
scholarrs1060502255
googlers1060502255
pharmgkbrs1060502255
gwascentralrs1060502255
openSNPrs1060502255
23andMers1060502255
23andMe allrs1060502255
SNPshotrs1060502255
SNPdbers1060502255
MSV3drs1060502255
GWAS Ctlgrs1060502255
Max Magnitude0
ClinVar
Risk rs1060502255(-;-)
Alt rs1060502255(-;-)
Reference Rs1060502255(A;A)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000009.11:g.137709650delA
CLNSRC
CLNACC RCV000459184.1,