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rs771415085

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs771415085(C;C)
Make rs771415085(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position189035106
GeneCOL5A2
is asnp
is mentioned by
dbSNPrs771415085
dbSNP (classic)rs771415085
ClinGenrs771415085
ebirs771415085
HLIrs771415085
Exacrs771415085
Gnomadrs771415085
Varsomers771415085
LitVarrs771415085
Maprs771415085
PheGenIrs771415085
Biobankrs771415085
1000 genomesrs771415085
hgdprs771415085
ensemblrs771415085
geneviewrs771415085
scholarrs771415085
googlers771415085
pharmgkbrs771415085
gwascentralrs771415085
openSNPrs771415085
23andMers771415085
SNPshotrs771415085
SNPdbers771415085
MSV3drs771415085
GWAS Ctlgrs771415085
Max Magnitude0
ClinVar
Risk rs771415085(A;A) rs771415085(C;C) rs771415085(T;T)
Alt rs771415085(A;A) rs771415085(C;C) rs771415085(T;T)
Reference Rs771415085(G;G)
Significance Probable-Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A2
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000002.11:g.189899832G>A; NC_000002.11:g.189899832G>T
CLNSRC
CLNACC RCV000458973.1, RCV000190499.2,