Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057519596

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519596(-;C)
Make rs1057519596(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position134767325
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs1057519596
dbSNP (old)rs1057519596
ClinGenrs1057519596
ebirs1057519596
HLIrs1057519596
Exacrs1057519596
Gnomadrs1057519596
Varsomers1057519596
Maprs1057519596
PheGenIrs1057519596
Biobankrs1057519596
1000 genomesrs1057519596
hgdprs1057519596
ensemblrs1057519596
gopubmedrs1057519596
geneviewrs1057519596
scholarrs1057519596
googlers1057519596
pharmgkbrs1057519596
gwascentralrs1057519596
openSNPrs1057519596
23andMers1057519596
23andMe allrs1057519596
SNPshotrs1057519596
SNPdbers1057519596
MSV3drs1057519596
GWAS Ctlgrs1057519596
Max Magnitude0
ClinVar
Risk rs1057519596(C;C)
Alt rs1057519596(C;C)
Reference Rs1057519596(-;-)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000009.11:g.137659171dupC
CLNSRC
CLNACC RCV000417109.1,