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rs557361751

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs557361751(C;T)
Make rs557361751(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position134750857
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs557361751
dbSNP (classic)rs557361751
ClinGenrs557361751
ebirs557361751
HLIrs557361751
Exacrs557361751
Gnomadrs557361751
Varsomers557361751
LitVarrs557361751
Maprs557361751
PheGenIrs557361751
Biobankrs557361751
1000 genomesrs557361751
hgdprs557361751
ensemblrs557361751
geneviewrs557361751
scholarrs557361751
googlers557361751
pharmgkbrs557361751
gwascentralrs557361751
openSNPrs557361751
23andMers557361751
SNPshotrs557361751
SNPdbers557361751
MSV3drs557361751
GWAS Ctlgrs557361751
Max Magnitude0
ClinVar
Risk rs557361751(T;T)
Alt rs557361751(T;T)
Reference Rs557361751(C;C)
Significance Probable-Pathogenic
Disease not specified Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN not specified Ehlers-Danlos syndrome, type 7A
Reversed 0
HGVS NC_000009.11:g.137642703C>T
CLNSRC
CLNACC RCV000196128.2, RCV000408358.1,