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rs1057518930

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518930(C;C)
Make rs1057518930(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position50197009
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs1057518930
dbSNP (old)rs1057518930
ClinGenrs1057518930
ebirs1057518930
HLIrs1057518930
Exacrs1057518930
Gnomadrs1057518930
Varsomers1057518930
LitVarrs1057518930
Maprs1057518930
PheGenIrs1057518930
Biobankrs1057518930
1000 genomesrs1057518930
hgdprs1057518930
ensemblrs1057518930
gopubmedrs1057518930
geneviewrs1057518930
scholarrs1057518930
googlers1057518930
pharmgkbrs1057518930
gwascentralrs1057518930
openSNPrs1057518930
23andMers1057518930
23andMe allrs1057518930
SNPshotrs1057518930
SNPdbers1057518930
MSV3drs1057518930
GWAS Ctlgrs1057518930
Max Magnitude0
ClinVar
Risk rs1057518930(C;C)
Alt rs1057518930(C;C)
Reference Rs1057518930(G;G)
Significance Pathogenic
Disease Blue sclerae Increased susceptibility to fractures Osteopenia
Variation info
Gene COL1A1
CLNDBN Blue sclerae Increased susceptibility to fractures Osteopenia
Reversed 1
HGVS NC_000017.10:g.48274370C>G
CLNSRC
CLNACC RCV000415384.1,