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rs1057518666

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518666(A;A)
Make rs1057518666(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position102978703
GeneCOL11A1
is asnp
is mentioned by
dbSNPrs1057518666
dbSNP (classic)rs1057518666
ClinGenrs1057518666
ebirs1057518666
HLIrs1057518666
Exacrs1057518666
Gnomadrs1057518666
Varsomers1057518666
LitVarrs1057518666
Maprs1057518666
PheGenIrs1057518666
Biobankrs1057518666
1000 genomesrs1057518666
hgdprs1057518666
ensemblrs1057518666
geneviewrs1057518666
scholarrs1057518666
googlers1057518666
pharmgkbrs1057518666
gwascentralrs1057518666
openSNPrs1057518666
23andMers1057518666
SNPshotrs1057518666
SNPdbers1057518666
MSV3drs1057518666
GWAS Ctlgrs1057518666
Max Magnitude0
ClinVar
Risk rs1057518666(A;A)
Alt rs1057518666(A;A)
Reference Rs1057518666(G;G)
Significance Pathogenic
Disease Stickler syndrome not provided
Variation info
Gene COL11A1
CLNDBN Stickler syndrome, type 2 not provided
Reversed 1
HGVS NC_000001.10:g.103444259C>T
CLNSRC
CLNACC RCV000414977.1, RCV000489508.1,