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rs1057518221

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518221(A;A)
Make rs1057518221(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position50188149
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs1057518221
dbSNP (old)rs1057518221
ClinGenrs1057518221
ebirs1057518221
HLIrs1057518221
Exacrs1057518221
Gnomadrs1057518221
Varsomers1057518221
Maprs1057518221
PheGenIrs1057518221
Biobankrs1057518221
1000 genomesrs1057518221
hgdprs1057518221
ensemblrs1057518221
gopubmedrs1057518221
geneviewrs1057518221
scholarrs1057518221
googlers1057518221
pharmgkbrs1057518221
gwascentralrs1057518221
openSNPrs1057518221
23andMers1057518221
23andMe allrs1057518221
SNPshotrs1057518221
SNPdbers1057518221
MSV3drs1057518221
GWAS Ctlgrs1057518221
Max Magnitude0
ClinVar
Risk rs1057518221(A;A)
Alt rs1057518221(A;A)
Reference Rs1057518221(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene COL1A1
CLNDBN not provided
Reversed 1
HGVS NC_000017.10:g.48265510C>T
CLNSRC
CLNACC RCV000414748.1,